Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.A52V
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SDHB

NM_003000.3:p.A52V

Associated Papers

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

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Dedifferentiation in SDH-Deficient Gastrointestinal Stromal Tumor: A Report With Histologic, Immunophenotypic, and Molecular Characterization.

Malik F et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019

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

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx
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