Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q835*
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NF1

NM_001042492.3:p.Q835*

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Ates K et al.

Molecular Syndromology, 2025

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

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
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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."