Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.L349P
Back to variants list

SLC25A12

NM_003705.5:p.L349P

Associated Papers

SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

Christen M et al.

Genes, 2022

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

A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs.

Shelton GD et al.

Journal of Neuromuscular Diseases, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."