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Q47139687-F2EAA9E3-288B-4EAB-AB3E-97FDFE0E43BC
Q47139687-F2EAA9E3-288B-4EAB-AB3E-97FDFE0E43BC
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http://www.wikidata.org/entity/statement/Q47139687-F2EAA9E3-288B-4EAB-AB3E-97FDFE0E43BC
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
P2860
Q47139687-F2EAA9E3-288B-4EAB-AB3E-97FDFE0E43BC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47139687-F2EAA9E3-288B-4EAB-AB3E-97FDFE0E43BC
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wasDerivedFrom
55e4e67b9583741cc46d983fed67f435e8d62323
P2860
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.