Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A1
Variant:p.G488E
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SLC5A1

NM_000343.4:p.G488E

Associated Papers

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Amat di San Filippo C et al.

Human Mutation, 2006

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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."