Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.L55_H56insFs
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SLC25A46

NM_138773.4:p.L55_H56insFs

Associated Papers

Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.

Yu H et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646756 (PubMed )
Supplement: media-1.xlsx › Table_S4

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ et al.

Human Mutation, 2018

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.

Duchesne A et al.

Plos Genetics, 2017

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ et al.

Nature Genetics, 2015

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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."