Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.R662C
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SDHA

NM_004168.4:p.R662C

Associated Papers

A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.

Kent JD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Systematic Assessment of Protein C-Termini Mutated in Human Disorders.

FitzHugh ZT et al.

Biomolecules, 2023

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.

Zehavi Y et al.

Metabolic Brain Disease, 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."