Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.K40E
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SDHB

NM_003000.3:p.K40E

Associated Papers

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 › 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

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.

Tufton N et al.

Endocrine Connections, 2019

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

Succinate Dehydrogenase B (SDHB)-Associated Bladder Paragangliomas.

Srirangalingam U et al.

Clinical Genitourinary Cancer, 2017

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Saxena N et al.

Journal of the National Cancer Institute, 2016

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Rattenberry E et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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

Ricketts CJ et al.

Human Mutation, 2010

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

Meyer-Rochow GY et al.

The Journal of Surgical Research, 2009

A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.

Ogawa K et al.

American Journal of Medical Genetics. Part A, 2006

Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.

Mora J et al.

Pediatric Blood & Cancer, 2006

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.

McDonnell CM et al.

Clinical Endocrinology, 2004

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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."