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Q41898877-6A169928-5A50-41B0-90DA-098C1D34A833
Q41898877-6A169928-5A50-41B0-90DA-098C1D34A833
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41898877-6A169928-5A50-41B0-90DA-098C1D34A833
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
P2860
Q41898877-6A169928-5A50-41B0-90DA-098C1D34A833
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41898877-6A169928-5A50-41B0-90DA-098C1D34A833
rank
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type
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Statement
wasDerivedFrom
91af08227216b07cc702259cac6e277ff9c28357
P2860
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.