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Q41826312-46A12083-CC39-4276-8270-AC810B05267A
Q41826312-46A12083-CC39-4276-8270-AC810B05267A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41826312-46A12083-CC39-4276-8270-AC810B05267A
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
P2860
Q41826312-46A12083-CC39-4276-8270-AC810B05267A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41826312-46A12083-CC39-4276-8270-AC810B05267A
rank
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type
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Statement
wasDerivedFrom
7fca4daddeb8b8362b99bb353216726a6131bdd6
P2860
Mutation of POC1B in a severe syndromic retinal ciliopathy