Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.M139T
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AASS

NM_005763.4:p.M139T

Associated Papers

Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Richter S et al.

Endocrine-related Cancer, 2022

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.

Ibrahim A et al.

Archives of Pathology & Laboratory Medicine, 2020

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M et al.

The International Journal of Biochemistry & Cell Biology, 2014

An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).

Nannini M et al.

Journal of Medical Genetics, 2013

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

Heesterman BL et al.

European Journal of Human Genetics : Ejhg, 2013

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

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

Braun S et al.

Anticancer Research, 0

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