Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L22F
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SDHC

NM_003001.5:p.L22F

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

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Amodru V et al.

Head & Neck, 2019

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

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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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."