Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.D138Y
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SDHB

NM_003000.3:p.D138Y

Associated Papers

Keratin 20 positive SDH-deficient renal cell carcinoma: a case report and literature review.

Dong SS et al.

Diagnostic Pathology, 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 › Missense_Variants

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Milionis V et al.

Clinical Case Reports, 2021

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