Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L62*
Back to variants list

NF1

NM_001042492.3:p.L62*

Associated Papers

Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.

Huang J et al.

Scientific Reports, 2025

40617948 (PubMed )
Supplement: 41598_2025_7318_MOESM1_ESM.xlsx › Final_Table

Lack of Influence of Non-Overlapping Mutations in BRAF, NRAS, or NF1 on 12-Month Best Objective Response and Long-Term Survival after Checkpoint Inhibitor-Based Treatment for Metastatic Melanoma.

Panning A et al.

Cancers, 2023

37444637 (PubMed )
Supplement: cancers-15-03527-s001.zip › Alyssa_Supplemental_Table_S1_pt_demographics_8-14-22.pdf

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Sorrentino U et al.

Cancers, 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

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

Cunha KS et al.

Genes, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."