Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A10
Variant:p.K263_G264Splc
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SLC25A10

NM_001270888.2:p.K263_G264Splc

Associated Papers

Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.

Noorian S et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2022

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Punzi G et al.

Human Molecular 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."