Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A6
Variant:p.Y190*
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SLC5A6

NM_021095.4:p.Y190*

Associated Papers

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V et al.

Molecular Genetics and Metabolism, 2012

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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."