Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.S509L
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SDHA

NM_004168.4:p.S509L

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

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

Structure of the human respiratory complex II.

Du Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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

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

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Nicolas E et al.

Molecular Genetics & Genomic Medicine, 2019

The role of complex II in disease.

Hoekstra AS et al.

Biochimica Et Biophysica Acta, 2013

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL et al.

Journal of Medical Genetics, 2012

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."