Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I2264insFs
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NF1

NM_001042492.3:p.I2264insFs

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C et al.

Genetics in Medicine Open, 2024

39669605 (PubMed )
Supplement: mmc1.pdf

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens O et al.

Human Mutation, 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."