Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.R257Q
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SLC25A46

NM_138773.4:p.R257Q

Associated Papers

Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2.

Boopathy S et al.

The Journal of Biological Chemistry, 2024

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.

Schuettpelz J et al.

Life Science Alliance, 2023

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

Abrams AJ et al.

Human Mutation, 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."