Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C253delFs
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SDHB

NM_003000.3:p.C253delFs

Associated Papers

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Jo KH et al.

Annals of Laboratory Medicine, 2024

39069753 (PubMed )
Supplement: alm-44-6-591-supple.pdf

Outcomes of systemic treatment according to germline mutational status in patients with metastatic pheochromocytoma and paraganglioma.

Park YG et al.

Clinical Genitourinary Cancer, 2024

Diagnosis, Genetics, and Management of 24 Patients With Cardiac Paragangliomas: Experience From a Single Center.

Shi C et al.

Journal of the Endocrine Society, 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

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park JS et al.

Cancer Research and Treatment, 2022

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.

Choi H et al.

Endocrinology and Metabolism (seoul, Korea), 2020

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.

Sagong B et al.

Familial Cancer, 2016

A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.

Lee SA et al.

Familial Cancer, 2010

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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."