Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1298*
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NF1

NM_001042492.3:p.Q1298*

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s011.xlsx › Sheet1

Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.

Jelinek T et al.

Leukemia, 2024

38493239 (PubMed )
Supplement: 41375_2024_2206_MOESM2_ESM.pdf

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Paterra R et al.

Cancers, 2022

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

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

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.2_VC_ARCH-PD

Children with 5'-end NF1 gene mutations are more likely to have glioma.

Anastasaki C et al.

Neurology. Genetics, 2017

28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Origone P et al.

Human Mutation, 2003

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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."