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1
Q36369911-969A7AB2-2931-43E2-8A1A-663C35D78088
Q36369911-969A7AB2-2931-43E2-8A1A-663C35D78088
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-969A7AB2-2931-43E2-8A1A-663C35D78088
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
P2860
Q36369911-969A7AB2-2931-43E2-8A1A-663C35D78088
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-969A7AB2-2931-43E2-8A1A-663C35D78088
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4f40309b8a65a05382bdf8dabe3c23de691a1d95
P2860
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.