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Q36127409-3E9A8D1A-729F-49AE-BE1D-EC01AC20811D
Q36127409-3E9A8D1A-729F-49AE-BE1D-EC01AC20811D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36127409-3E9A8D1A-729F-49AE-BE1D-EC01AC20811D
Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract
P2860
Q36127409-3E9A8D1A-729F-49AE-BE1D-EC01AC20811D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36127409-3E9A8D1A-729F-49AE-BE1D-EC01AC20811D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
34febd99844b2bc4659fca848684c6a1e7b5de6b
P2860
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.