Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S636C
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NF1

NM_001042492.3:p.S636C

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

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

Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.

Stankunaite R et al.

European Journal of Cancer (oxford, England : 1990), 2022

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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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."