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Q30032671-7C1FC517-9A99-4A72-85FE-777912C786AE
Q30032671-7C1FC517-9A99-4A72-85FE-777912C786AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30032671-7C1FC517-9A99-4A72-85FE-777912C786AE
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
P2860
Q30032671-7C1FC517-9A99-4A72-85FE-777912C786AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30032671-7C1FC517-9A99-4A72-85FE-777912C786AE
rank
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wasDerivedFrom
d0dcce453cf7a711203ca9b8129fcd4569b08f05
P2860
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.