Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.G849insFs
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NF1

NM_001042492.3:p.G849insFs

Associated Papers

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

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Stewart DR et al.

Genes, Chromosomes & Cancer, 2012

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC et al.

The Journal of Molecular Diagnostics : Jmd, 2011

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Brems H et al.

Cancer Research, 2009

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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."