Title : [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].

Pub. Date : 2020 Feb 10

PMID : 32034746






2 Functional Relationships(s)
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1 [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. Thiamine solute carrier family 19 member 3 Homo sapiens
2 Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease. Thiamine solute carrier family 19 member 3 Homo sapiens