Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P141_D142Splc
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SDHB

NM_003000.3:p.P141_D142Splc

Associated Papers

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 2022

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.

Gordon DM et al.

Endocrine Connections, 2022

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Hoekstra AS et al.

Oncotarget, 2015

26472283 (PubMed )
Supplement: oncotarget-06-38777-s002.xlsx › Sheet1

Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications.

Postow MA et al.

Clinical Sarcoma Research, 2012

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Pasini B et al.

European Journal of Human Genetics : Ejhg, 2008

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Amar L et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Familial gastrointestinal stromal tumors and germ-line mutations.

McWhinney SR et al.

The New England Journal of Medicine, 2007

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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."