Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.W1997*
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NF1

NM_001042492.3:p.W1997*

Associated Papers

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A et al.

Nature Communications, 2025

40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.

Mudau MM et al.

Frontiers in Genetics, 2024

Author Correction: Genetic features and therapeutic relevance of emergent circulating tumor DNA alterations in refractory non-colorectal gastrointestinal cancers.

Hsiehchen D et al.

Nature Communications, 2023

37993437 (PubMed )
Supplement: 41467_2023_43052_MOESM2_ESM.xlsx › Figure_5

Genetic features and therapeutic relevance of emergent circulating tumor DNA alterations in refractory non-colorectal gastrointestinal cancers.

Hsiehchen D et al.

Nature Communications, 2022

36463294 (PubMed )
Supplement: 41467_2022_35144_MOESM3_ESM.xlsx › Figure_5

Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang Y et al.

Neuro-oncology, 2022

35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S9_genetic_evolution

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › NF1

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Barresi V et al.

Acta Neuropathologica Communications, 2021

34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2

Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma.

Song YS et al.

Cancers, 2020

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T et al.

Genes, 2019

Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.

Palma Milla C et al.

Annals of Human Genetics, 2018

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

De Raedt T et al.

Genes, Chromosomes & Cancer, 2006

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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."