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Q36369911-3FAD1FF0-CD06-494B-BE02-57CA2666A630
Q36369911-3FAD1FF0-CD06-494B-BE02-57CA2666A630
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-3FAD1FF0-CD06-494B-BE02-57CA2666A630
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
P2860
Q36369911-3FAD1FF0-CD06-494B-BE02-57CA2666A630
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-3FAD1FF0-CD06-494B-BE02-57CA2666A630
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4f40309b8a65a05382bdf8dabe3c23de691a1d95
P2860
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.