Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.T264_M265ins11
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SLC22A5

NM_003060.4:p.T264_M265ins11

Associated Papers

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.

Jolfayi AG et al.

Bmc Cardiovascular Disorders, 2024

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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."