Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.Q218P
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SLC25A4

NM_001151.4:p.Q218P

Associated Papers

Adenine nucleotide carrier protein dysfunction in human disease.

Mishra G et al.

Iubmb Life, 2023

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

Palmieri F et al.

Biomolecules, 2020

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

von Renesse A et al.

Jimd Reports, 2019

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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."