Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.V446delFs
Back to variants list

SDHA

NM_004168.4:p.V446delFs

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

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

Kaplan AI et al.

Endocrine-related Cancer, 2024

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 › Truncating_Variants

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 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

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

30091983 (PubMed )
Supplement: pone.0201041.s004.xlsx › Tabelle1

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

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Rattenberry E et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."