Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.I49insFs
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SDHD

NM_003002.4:p.I49insFs

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 › Truncating_Variants

SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.

Armstrong N et al.

Cell Reports, 2022

35235785 (PubMed )
Supplement: NIHMS1785223-supplement-1.pdf

Secondary findings in 622 Turkish clinical exome sequencing data.

Arslan Ateş E et al.

Journal of Human Genetics, 2021

Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.

Saie C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Yalcintepe S et al.

Journal of Kidney Cancer and Vhl, 2021

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