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Q34466839-183941CB-6334-4651-A5AD-8150A3A8BBEA
Q34466839-183941CB-6334-4651-A5AD-8150A3A8BBEA
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http://www.wikidata.org/entity/statement/Q34466839-183941CB-6334-4651-A5AD-8150A3A8BBEA
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
P2860
Q34466839-183941CB-6334-4651-A5AD-8150A3A8BBEA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34466839-183941CB-6334-4651-A5AD-8150A3A8BBEA
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wasDerivedFrom
cde73f111b36e8b0269e9703693f49638a031944
P2860
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.