Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.R347C
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SLC25A46

NM_138773.4:p.R347C

Associated Papers

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

Schuettpelz J et al.

Life Science Alliance, 2023

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.

Li Q et al.

Journal of Personalized Medicine, 2021

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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."