Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.R465W
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SDHA

NM_004168.4:p.R465W

Associated Papers

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Meossi C et al.

Clinical Genetics, 2025

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

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ et al.

Cancers, 2024

38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1

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

Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.

Bannon AE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

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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."