Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.Q39fs
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SLC25A4

NM_001151.4:p.Q39fs

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

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

von Renesse A et al.

Jimd Reports, 2019

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K et al.

American Journal of Human Genetics, 2016

27693233 (PubMed )
Supplement: mmc1.pdf

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Körver-Keularts IM et al.

Jimd Reports, 2015

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