Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P56fs
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SDHB

NM_003000.3:p.P56fs

Associated Papers

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

Dong SS et al.

Diagnostic Pathology, 2024

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?

Peña-López J et al.

Cancers, 2024

Research progress on the pathogenesis of the SDHB mutation and related diseases.

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Davidoff DF et al.

Endocrine-related Cancer, 2023

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

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I et al.

European Journal of Endocrinology, 2021

Metastatic Paraganglioma of the Spine With SDHB Mutation: Case Report and Review of the Literature.

Jabarkheel R et al.

International Journal of Spine Surgery, 2021

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report.

Ugarte-Camara M et al.

Diagnostic Pathology, 2019

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

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Belinsky MG et al.

Bmc Cancer, 2017

Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

Kim E et al.

Molecular Genetics and Metabolism Reports, 2017

28070496 (PubMed )
Supplement: mmc5.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."