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1
Q52098860-D28077FF-EA80-4C59-AD0F-EA03B3CD6F38
Q52098860-D28077FF-EA80-4C59-AD0F-EA03B3CD6F38
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52098860-D28077FF-EA80-4C59-AD0F-EA03B3CD6F38
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
P2860
Q52098860-D28077FF-EA80-4C59-AD0F-EA03B3CD6F38
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52098860-D28077FF-EA80-4C59-AD0F-EA03B3CD6F38
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
49fc03d794548e254ac3b23812ab848eb14929d6
P2860
Treatable Leigh-like encephalopathy presenting in adolescence.