Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.L42P
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SLC22A5

NM_003060.4:p.L42P

Associated Papers

Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.

Pınar E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."