Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.M519V
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SDHA

NM_004168.4:p.M519V

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5

Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing.

Khotina VA et al.

Biomedicines, 2023

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.

Mahmud S et al.

Current Issues in Molecular Biology, 2022

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases.

Rahman S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

Pathogenic mutations of nuclear genes associated with mitochondrial disorders.

Zhu X et al.

Acta Biochimica Et Biophysica Sinica, 2009

New approaches to the treatment of mitochondrial disorders.

Chinnery PF

Reproductive Biomedicine Online, 2004

Mitochondria and the heart.

Hirano M et al.

Current Opinion in Cardiology, 2001

Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases.

Hanna MG et al.

Cellular and Molecular Life Sciences : Cmls, 1999

Mitochondria and heart disease.

DiMauro S et al.

Current Opinion in Cardiology, 1998

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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."