Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R72H
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SDHC

NM_003001.5:p.R72H

Associated Papers

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 2022

34452955 (PubMed )
Supplement: jmedgenet-2020-107652supp002.xlsx › SDHB_variants

SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Williams ST et al.

Clinical Endocrinology, 2022

The emerging clinical relevance of genomic profiling in neuroendocrine tumours.

Burak GI et al.

Bmc Cancer, 2021

Urinary Bladder Paragangliomas: Analysis of Succinate Dehydrogenase and Outcome.

Gupta S et al.

Endocrine Pathology, 2016

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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."