Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A1
Variant:p.M218fs
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SLC25A1

NM_005984.5:p.M218fs

Associated Papers

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A et al.

Journal of Inherited Metabolic Disease, 2018

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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."