Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.S57Splc
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SDHD

NM_003002.4:p.S57Splc

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

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.

Szeliga A et al.

International Journal of Environmental Research and Public Health, 2020

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

SDHD-related chromaffin tumours: disease localisation to genetic dysfunction.

Srirangalingam U et al.

Hormone Research in Paediatrics, 2010

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