Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y433*
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NF1

NM_001042492.3:p.Y433*

Associated Papers

Pulmonary papillary adenoma: comprehensive clinicopathologic analysis of 10 cases and molecular genetic analysis of 7 cases.

He S et al.

Virchows Archiv : an International Journal of Pathology, 2025

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A et al.

Nature Communications, 2025

40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4

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

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.

Brekelmans C et al.

Human Mutation, 2019

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Wimmer K et al.

Pediatric Research, 2005

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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."