Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.G46D
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SORD

NM_003104.6:p.G46D

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 › Missense_Variants

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.

Ibrahim A et al.

Archives of Pathology & Laboratory Medicine, 2020

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

Rijken JA et al.

Cancers, 2019

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Rijken JA et al.

Bjs Open, 2018

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Casey RT et al.

Jco Precision Oncology, 2018

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

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

Ricketts CJ et al.

The Journal of Urology, 2012

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

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

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