Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.L133F
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AASS

NM_005763.4:p.L133F

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

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

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

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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