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Q36369911-8F89BBF9-85DA-4A42-BF6A-5189FE93E314
Q36369911-8F89BBF9-85DA-4A42-BF6A-5189FE93E314
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-8F89BBF9-85DA-4A42-BF6A-5189FE93E314
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
P2860
Q36369911-8F89BBF9-85DA-4A42-BF6A-5189FE93E314
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36369911-8F89BBF9-85DA-4A42-BF6A-5189FE93E314
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
4f40309b8a65a05382bdf8dabe3c23de691a1d95
P2860
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing