Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.V13L
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NF1

NM_001042492.3:p.V13L

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

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Bonetti E et al.

Human Genomics, 2025

40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer.

Kahraman Çetin N et al.

Balkan Medical Journal, 2021

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL et al.

American Journal of Medical Genetics. Part A, 2006

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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."