Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.K1423Q
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NF1

NM_000267.3:p.K1423Q

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

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

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

Martorana D et al.

European Journal of Medical Genetics, 2023

Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Choi EJ et al.

Haematologica, 2022

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

N Abdel-Aziz N et al.

Molecular Genetics & Genomic Medicine, 2021

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.

Brekelmans C et al.

Human Mutation, 2019

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Stella A et al.

Genes, 2018

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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."