Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.K33Q
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SLC25A4

NM_001151.4:p.K33Q

Associated Papers

Adenine nucleotide carrier protein dysfunction in human disease.

Mishra G et al.

Iubmb Life, 2023

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Gilea AI et al.

Genes, 2021

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations.

di Punzio G et al.

International Journal of Molecular Sciences, 2021

The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.

Kunji ERS et al.

Physiology (bethesda, Md.), 2020

The ADP/ATP translocase drives mitophagy independent of nucleotide exchange.

Hoshino A et al.

Nature, 2019

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.

King MS et al.

Neurology. Genetics, 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."