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Q50101851-A8228390-8252-4E0A-A30F-DE2B932F8F55
Q50101851-A8228390-8252-4E0A-A30F-DE2B932F8F55
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Statement
http://www.wikidata.org/entity/statement/Q50101851-A8228390-8252-4E0A-A30F-DE2B932F8F55
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-A8228390-8252-4E0A-A30F-DE2B932F8F55
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-A8228390-8252-4E0A-A30F-DE2B932F8F55
rank
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type
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wasDerivedFrom
bce1890d0c8b361ec2138e9c79d5fac8118c9af3
P2860
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.