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Q50101851-2B9E62AD-07A7-4EF3-A32A-CFC32A328E1D
Q50101851-2B9E62AD-07A7-4EF3-A32A-CFC32A328E1D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-2B9E62AD-07A7-4EF3-A32A-CFC32A328E1D
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
Q50101851-2B9E62AD-07A7-4EF3-A32A-CFC32A328E1D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-2B9E62AD-07A7-4EF3-A32A-CFC32A328E1D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bce1890d0c8b361ec2138e9c79d5fac8118c9af3
P2860
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy