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Index > Protein center > TGFBI(Gene name) > Human
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  • TGFBI (Gene name),
  • Transforming growth factor-beta-induced protein ig-h3 (Protein name ),  BGH3_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    TGFBI(BIGH3);
    Protein name:
    Transforming growth factor-beta-induced protein ig-h3(Beta ig-h3);
    Alternative:
    RGD-containing collagen-associated protein(RGD-CAP);Kerato-epithelin;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
    Subcellular Location:
    Secreted extracellular space extracellular matrix May be associated both with microfibrils and with the cell surface.
    Protein Attributes:
    Sequence length:
    683
    Sequence:
    50:
    MALFVRLLAL | ALALALGPAA | TLAGPAKSPY | QLVLQHSRLR | GRQHGPNVCA | 
    100:
    VQKVIGTNRK | YFTNCKQWYQ | RKICGKSTVI | SYECCPGYEK | VPGEKGCPAA | 
    150:
    LPLSNLYETL | GVVGSTTTQL | YTDRTEKLRP | EMEGPGSFTI | FAPSNEAWAS | 
    200:
    LPAEVLDSLV | SNVNIELLNA | LRYHMVGRRV | LTDELKHGMT | LTSMYQNSNI | 
    250:
    QIHHYPNGIV | TVNCARLLKA | DHHATNGVVH | LIDKVISTIT | NNIQQIIEIE | 
    300:
    DTFETLRAAV | AASGLNTMLE | GNGQYTLLAP | TNEAFEKIPS | ETLNRILGDP | 
    350:
    EALRDLLNNH | ILKSAMCAEA | IVAGLSVETL | EGTTLEVGCS | GDMLTINGKA | 
    400:
    IISNKDILAT | NGVIHYIDEL | LIPDSAKTLF | ELAAESDVST | AIDLFRQAGL | 
    450:
    GNHLSGSERL | TLLAPLNSVF | KDGTPPIDAH | TRNLLRNHII | KDQLASKYLY | 
    500:
    HGQTLETLGG | KKLRVFVYRN | SLCIENSCIA | AHDKRGRYGT | LFTMDRVLTP | 
    550:
    PMGTVMDVLK | GDNRFSMLVA | AIQSAGLTET | LNREGVYTVF | APTNEAFRAL | 
    600:
    PPRERSRLLG | DAKELANILK | YHIGDEILVS | GGIGALVRLK | SLQGDKLEVS | 
    650:
    LKNNVVSVNK | EPVAEPDIMA | TNGVVHVITN | VLQPPANRPQ | ERGDELADSA | 
    683:
    LEIFKQASAF | SRASQRSVRL | APVYQKLLER | MKH
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    UniGene:
    Pfam:
    SMR:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Beta ig-h3
    Cat.:
    E9124h
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Beta ig-h3
    MSDS:
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    ELISA Kit for Human Beta ig-h3
    Cat.:
    E9124m
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Beta ig-h3
    MSDS:
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    ELISA Kit for Human Beta ig-h3
    Cat.:
    E9124p
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Beta ig-h3
    Cat.:
    U9124m
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Beta ig-h3
    Cat.:
    U9124p
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Beta ig-h3
    MSDS:
    Please sign in first.
    CLIA Kit for Human Beta ig-h3
    Cat.:
    U9124h
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Beta ig-h3
    MSDS:
    Please sign in first.
    Polyclonal Antibody for Human Beta ig-h3
    Polyclonal Antibody for Human Beta ig-h3
    Polyclonal Antibody for Human Beta ig-h3
    Cat.:
    P9124Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Beta ig-h3
    Cat.:
    P9124Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Beta ig-h3
    Monoclonal Antibody for Human Beta ig-h3
    Monoclonal Antibody for Human Beta ig-h3
    Monoclonal Antibody for Human Beta ig-h3
    Monoclonal Antibody for Human Beta ig-h3
    Monoclonal Antibody for Human Beta ig-h3
    Protein for Human Beta ig-h3
    Protein for Human Beta ig-h3
    Protein for Human Beta ig-h3
    Protein for Human Beta ig-h3
    Protein for Human Beta ig-h3

    R&D Technical Data
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    Recovery
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    Linearity
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    References
    1. 1.
      "cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta."
      Skonier J. , Neubauer M. , Madisen L. , Bennett K. , Plowman G.D. , Purchio A.F.
      DNA Cell Biol.11:511-522(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    2. 2.
      "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies."
      Munier F.L. , Korvatska E. , Djemai A. , le Paslier D. , Zografos L. , Pescia G. , Schorderet D.F.
      Nat. Genet.15:247-251(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555
    3. 3.
      NIEHS SNPs program
      Submitted (2002-09) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT PHE-200
    4. 4.
      "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
      Submitted (2003-08) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    5. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 7.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Kidney.
    7. 8.
      "cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium."
      Escribano J. , Hernando N. , Ghosh S. , Crabb J. , Coca-Prados M.
      J. Cell. Physiol.160:511-521(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TISSUE SPECIFICITY
    8. 9.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS CORNEAL DYSTROPHIES
    9. 10.
      "Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3."
      RIKEN structural genomics initiative (RSGI)
      Submitted (2006-01) to the PDB data bank
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 502-634
    10. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555
    11. 12.
      "A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA."
      Yamamoto S. , Okada M. , Tsujikawa M. , Shimomura Y. , Nishida K. , Inoue Y. , Watanabe H. , Maeda N. , Kurahashi H. , Kinoshita S. , Nakamura Y. , Tano Y.
      Am. J. Hum. Genet.62:719-722(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL3A THR-501
    12. 13.
      "Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy."
      Okada M. , Yamamoto S. , Tsujikawa M. , Watanabe H. , Inoue Y. , Maeda N. , Shimomura Y. , Nishida K. , Quantock A.J. , Kinoshita S. , Tano Y.
      Am. J. Ophthalmol.126:535-542(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDRB LEU-124
    13. 14.
      "A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities."
      Fujiki K. , Hotta Y. , Nakayasu K. , Yokoyama T. , Takano T. , Yamaguchi T. , Kanai A.
      Hum. Genet.103:286-289(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 ARG-527
    14. 15.
      "A common beta ig-h3 gene mutation (delta F540) in a large cohort of Sardinian Reis Buecklers' corneal dystrophy patients."
      Rozzo C. , Fossarello M. , Galleri G. , Sole G. , Serru A. , Orzalesi N. , Serra A. , Pirastu M.
      Hum. Mutat.12:215-216(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDRB PHE-540 DEL
    15. 16.
      "Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis."
      Stewart H.S. , Ridgway A.E. , Dixon M.J. , Bonshek R.E. , Parveen R. , Black G.C.
      Hum. Mutat.14:126-132(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES HIS-124; SER-124 AND TRP-555
    16. 17.
      "A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy."
      Stewart H.S. , Black G.C. , Donnai D. , Bonshek R.E. , McCarthy J. , Morgan S. , Dixon M.J. , Ridgway A.A.
      Ophthalmology106:964-970(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CDL HIS-622 AND ARG-626
    17. 18.
      "Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan."
      Mashima Y. , Yamamoto S. , Inoue Y. , Yamada M. , Konishi M. , Watanabe H. , Maeda N. , Shimomura Y. , Kinoshita S.
      Am. J. Ophthalmol.130:516-517(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; THR-501; ARG-527; SER-544; GLN-555 AND TRP-555
    18. 19.
      "A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126."
      Dighiero P. , Drunat S. , D'Hermies F. , Renard G. , Delpech M. , Valleix S.
      Arch. Ophthalmol.118:814-818(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES LEU-124 AND 125-THR-GLU-126 DEL
    19. 20.
      "Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene."
      Hirano K. , Hotta Y. , Fujiki K. , Kanai A.
      Br. J. Ophthalmol.84:583-585(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 PRO-518
    20. 21.
      "Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene."
      Hirano K. , Hotta Y. , Nakamura M. , Fujiki K. , Kanai A. , Yamamoto N.
      Cornea20:525-529(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 ARG-527
    21. 22.
      "Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene."
      Dighiero P. , Niel F. , Ellies P. , D'Hermies F. , Savoldelli M. , Renard G. , Delpech M. , Valleix S.
      Ophthalmology108:818-823(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; 125-THR-GLU-126 DEL; THR-546; GLN-555; TRP-555 AND ARG-626
    22. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; SER-124; ARG-518; ARG-538; PHE-540 DEL; TRP-555; LYS-622; ASP-623; ARG-626; PRO-626 AND ASP-631
    23. 24.
      "A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I."
      Warren J.F. , Abbott R.L. , Yoon M.K. , Crawford J.B. , Spencer W.H. , Margolis T.P.
      Am. J. Ophthalmol.136:872-878(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 ARG-569
    24. 25.
      "A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy."
      Ha N.T. , Cung le X. , Chau H.M. , Thanh T.K. , Fujiki K. , Murakami A. , Kanai A.
      Jpn. J. Ophthalmol.47:246-248(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GRANULAR CORNEAL DYSTROPHY HIS-123
    25. 26.
      "Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene."
      Aldave A.J. , Gutmark J.G. , Yellore V.S. , Affeldt J.A. , Meallet M.A. , Udar N. , Rao N.A. , Small K.W. , Klintworth G.K.
      Am. J. Ophthalmol.138:772-781(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CDL1 ASP-546 AND GLN-551
    26. 27.
      "TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients."
      Chakravarthi S.V.V.K. , Kannabiran C. , Sridhar M.S. , Vemuganti G.K.
      Invest. Ophthalmol. Vis. Sci.46:121-125(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CDL1 CYS-124 AND ARG-626;VARIANT CDRB LEU-124;VARIANT CDGG1 TRP-555;VARIANTS LATTICE CORNEAL DYSTROPHY ASP-539; VAL-594 AND 624-VAL-VAL-625 DEL;VARIANT PHE-269
    27. 28.
      "Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin."
      Stix B. , Leber M. , Bingemer P. , Gross C. , Rueschoff J. , Faendrich M. , Schorderet D.F. , Vorwerk C.K. , Zacharias M. , Roessner A. , Roecken C.
      Invest. Ophthalmol. Vis. Sci.46:1133-1139(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL3A SER-540
    28. 29.
      "Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I."
      Tian X. , Fujiki K. , Wang W. , Murakami A. , Xie P. , Kanai A. , Liu Z.
      Jpn. J. Ophthalmol.49:84-88(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 ASP-505
    29. 30.
      "A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3."
      Boutboul S. , Black G.C.M. , Moore J.E. , Sinton J. , Menasche M. , Munier F.L. , Laroche L. , Abitbol M. , Schorderet D.F.
      Hum. Mutat.27:553-557(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EBMD ARG-509 AND SER-666
    30. 31.
      "A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I."
      Atchaneeyasakul L.-O. , Appukuttan B. , Pingsuthiwong S. , Yenchitsomanus P.-T. , Trinavarat A. , Srisawat C.
      Jpn. J. Ophthalmol.50:403-408(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 ARG-572
    31. 32.
      "Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene."
      Aldave A.J. , Rayner S.A. , Kim B.T. , Prechanond A. , Yellore V.S.
      Mol. Vis.12:142-146(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CDL1 HIS-572 DEL
    32. 33.
      "Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy."
      Zenteno J.C. , Ramirez-Miranda A. , Santacruz-Valdes C. , Suarez-Sanchez R.
      Mol. Vis.12:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GRANULAR CORNEAL DYSTROPHY ILE-113
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