Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.W1952*
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NF1

NM_001042492.3:p.W1952*

Associated Papers

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Idrissova Z et al.

Genes, 2025

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › NF1

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas.

Scheer M et al.

International Journal of Molecular Sciences, 2021

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

Pathogenic mutations in neurofibromin identifies a leucine-rich domain regulating glioma cell invasiveness.

Fadhlullah SFB et al.

Oncogene, 2019

Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Lee MJ et al.

Human Mutation, 2006

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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."