Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1742*
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NF1

NM_000267.3:p.Q1742*

Associated Papers

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation.

Huang RSP et al.

The Oncologist, 2022

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.

Perez-Becerril C et al.

Human Mutation, 2021

Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase.

Okawa Y et al.

Oncotarget, 2021

34316332 (PubMed )
Supplement: oncotarget-12-1540-s001.pdf

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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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."