Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.Y401_S402insFs
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SLC22A5

NM_003060.4:p.Y401_S402insFs

Associated Papers

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Amat di San Filippo C et al.

Human Mutation, 2006

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

Dobrowolski SF et al.

Human Mutation, 2005

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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."