Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A1
Variant:p.Y181H
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SLC25A1

NM_005984.5:p.Y181H

Associated Papers

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Valayannopoulos V et al.

Journal of Inherited Metabolic Disease, 2012

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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."