Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.I719fs
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NF1

NM_001042492.3:p.I719fs

Associated Papers

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

Wang R et al.

Orphanet Journal of Rare Diseases, 2025

40462134 (PubMed )
Supplement: 13023_2025_3759_MOESM2_ESM.xlsx › Sheet1

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

KIT-Dependent and KIT-Independent Genomic Heterogeneity of Resistance in Gastrointestinal Stromal Tumors - TORC1/2 Inhibition as Salvage Strategy.

Mühlenberg T et al.

Molecular Cancer Therapeutics, 2019

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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."