Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF2
Variant:p.W55*
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SDHAF2

NM_017841.4:p.W55*

Associated Papers

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.

Yoshihama K et al.

Clinical Genetics, 2023

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Lincoln SE et al.

Jama Network Open, 2020

33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf

A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant.

Wolf KI et al.

Journal of the Endocrine Society, 2019

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