Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R512*
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NF1

NM_001042492.3:p.R512*

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P et al.

Journal of the Endocrine Society, 2018

29978154 (PubMed )
Supplement: js.2018-00120.sd1.docx
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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."