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Q50101851-384A6794-8AE7-4315-8E02-E79A2BFE3963
Q50101851-384A6794-8AE7-4315-8E02-E79A2BFE3963
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-384A6794-8AE7-4315-8E02-E79A2BFE3963
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
Q50101851-384A6794-8AE7-4315-8E02-E79A2BFE3963
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50101851-384A6794-8AE7-4315-8E02-E79A2BFE3963
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type
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wasDerivedFrom
bce1890d0c8b361ec2138e9c79d5fac8118c9af3
P2860
Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.