Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.R38*
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AASS

NM_005763.4:p.R38*

Associated Papers

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

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

Hensen EF et al.

Clinical Genetics, 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

Systematic screening and treatment evaluation of hereditary neck paragangliomas.

Fish JH et al.

Head & Neck, 2007

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

Astrom K et al.

Human Genetics, 2003

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

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