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Q35952846-3B903880-A181-4312-82FC-3D33350F31B4
Q35952846-3B903880-A181-4312-82FC-3D33350F31B4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35952846-3B903880-A181-4312-82FC-3D33350F31B4
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
P2860
Q35952846-3B903880-A181-4312-82FC-3D33350F31B4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35952846-3B903880-A181-4312-82FC-3D33350F31B4
rank
NormalRank
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Statement
wasDerivedFrom
9ad228b4090d67f72702c88129eac4774997f9b8
P2860
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.