Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.A83V
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SDHA

NM_004168.4:p.A83V

Associated Papers

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Identification of Putative SDHI Target Site Mutations in the SDHB, SDHC, and SDHD Subunits of the Grape Powdery Mildew Pathogen Erysiphe necator.

Stergiopoulos I et al.

Plant Disease, 2022

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH et al.

Molecular Genetics & Genomic Medicine, 2021

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Renkema GH et al.

European Journal of Human Genetics : Ejhg, 2015

Complex II deficiency--a case report and review of the literature.

Jain-Ghai S et al.

American Journal of Medical Genetics. Part A, 2013

Structural basis for malfunction in complex II.

Iverson TM et al.

The Journal of Biological Chemistry, 2012

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Horváth R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2006

The genetic basis of isolated mitochondrial complex II deficiency.

Fullerton M et al.

Molecular Genetics and Metabolism, 0

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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."