Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.W426*
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NF1

NM_001042492.3:p.W426*

Associated Papers

Clinical and Genetic Landscape of Glioblastoma, IDH-Wildtype With FGFR Gene Family Alterations.

Kegoya Y et al.

Cancer Science, 2026

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2

Mesenchymal-Type Genetic Mutations Are Likely Prerequisite for Glioblastoma Multiforme to Metastasize Outside the Central Nervous System: An Original Case Series and Systematic Review of the Literature.

Laurin BJ et al.

World Neurosurgery, 2025

The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing.

Du Y et al.

Frontiers in Neurology, 2025

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5

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

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 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

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-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S et al.

Human Genomics, 2011

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Griffiths S et al.

Familial Cancer, 2007

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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."