Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.M1L
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SDHA

NM_004168.4:p.M1L

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.

Han X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.

Kaplan AI et al.

Endocrine-related Cancer, 2024

Pheochromocytoma/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report

Morales J et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2024

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Schipani A et al.

Genes, 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

SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.

Pantaleo MA et al.

Frontiers in Oncology, 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

Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report.

Carrera S et al.

Hereditary Cancer in Clinical Practice, 2019

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P et al.

Journal of the Endocrine Society, 2018

29978154 (PubMed )
Supplement: js.2018-00120.sd1.docx

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B et al.

Jama Oncology, 2017

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Favier J et al.

Hormone Research, 2005

Cytopathies involving mitochondrial complex II.

Ackrell BA

Molecular Aspects of Medicine, 2002

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."