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Q50101851-11AC9932-FB21-48DD-9C93-2279D0F4CB81
Q50101851-11AC9932-FB21-48DD-9C93-2279D0F4CB81
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-11AC9932-FB21-48DD-9C93-2279D0F4CB81
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
P2860
Q50101851-11AC9932-FB21-48DD-9C93-2279D0F4CB81
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-11AC9932-FB21-48DD-9C93-2279D0F4CB81
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Statement
wasDerivedFrom
bce1890d0c8b361ec2138e9c79d5fac8118c9af3
P2860
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.