Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF2
Variant:p.R69H
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SDHAF2

NM_017841.4:p.R69H

Associated Papers

Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.

Orrego JJ et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2024

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
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