Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.M538fs
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NF1

NM_001042492.3:p.M538fs

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

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

31320640 (PubMed )
Supplement: 41467_2019_11107_MOESM9_ESM.xlsx › Table_S6_Actionable

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Bonatti F et al.

International Journal of Molecular Sciences, 2017

28961165 (PubMed )
Supplement: ijms-18-02071-s001.pdf
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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."