Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.F238fs
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SDHB

NM_003000.3:p.F238fs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Rijken JA et al.

Clinical Genetics, 2018

The phenotype of SDHB germline mutation carriers: a nationwide study.

Niemeijer ND et al.

European Journal of Endocrinology, 2017

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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."