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Q35629094-8324496C-BA0E-4ECE-B67B-FBC55C61BFA3
Q35629094-8324496C-BA0E-4ECE-B67B-FBC55C61BFA3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35629094-8324496C-BA0E-4ECE-B67B-FBC55C61BFA3
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
P2860
Q35629094-8324496C-BA0E-4ECE-B67B-FBC55C61BFA3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35629094-8324496C-BA0E-4ECE-B67B-FBC55C61BFA3
rank
NormalRank
type
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Statement
wasDerivedFrom
2e891b31faa7a12591c7bbf5fe1fd813d2bd2152
P2860
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.