Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A3
Variant:p.S242F
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SLC5A3

NM_006933.7:p.S242F

Associated Papers

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.

Vreken P et al.

Journal of Inherited Metabolic Disease, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."