Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.V77_P78delFs
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SLC22A5

NM_003060.4:p.V77_P78delFs

Associated Papers

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Deswal S et al.

Indian Journal of Pediatrics, 2017

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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."