Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R16C
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NF1

NM_001042492.3:p.R16C

Associated Papers

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

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Chelleri C et al.

American Journal of Medical Genetics. Part A, 2024

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.

Chen J et al.

Journal of Molecular Neuroscience : Mn, 2024

39373898 (PubMed )
Supplement: 12031_2024_2271_MOESM1_ESM.docx

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS et al.

Human Mutation, 2003

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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."