Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q83fs
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NF1

NM_001042492.3:p.Q83fs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

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

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.

de Witte CJ et al.

Cancers, 2022

35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS7_Actionability

Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.

Heeke S et al.

Journal of Translational Medicine, 2020

32066459 (PubMed )
Supplement: 12967_2020_2259_MOESM2_ESM.xlsx › Liquid_Biopsy

Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic NF1 and Notch Pathway Mutations.

Burgoyne AM et al.

Jco Precision Oncology, 2017

Broad, Hybrid Capture-Based Next-Generation Sequencing Identifies Actionable Genomic Alterations in Lung Adenocarcinomas Otherwise Negative for Such Alterations by Other Genomic Testing Approaches.

Drilon A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

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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."