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Q37323232-F9A96588-63A5-4C2E-A979-EE27BFE2CFE1
Q37323232-F9A96588-63A5-4C2E-A979-EE27BFE2CFE1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37323232-F9A96588-63A5-4C2E-A979-EE27BFE2CFE1
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
P2860
Q37323232-F9A96588-63A5-4C2E-A979-EE27BFE2CFE1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37323232-F9A96588-63A5-4C2E-A979-EE27BFE2CFE1
rank
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type
BestRank
Statement
wasDerivedFrom
8c84fe9bcd4c1de0cb1a5183f9c94c4aaa22210e
P2860
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.