Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.H114R
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SDHC

NM_003001.5:p.H114R

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

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.

Shulskaya MV et al.

The International Journal of Neuroscience, 2018

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Panizza E et al.

Human Molecular Genetics, 2013

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

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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."