Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.W41*
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NF2

NM_000268.4:p.W41*

Associated Papers

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA et al.

Neuro-oncology, 2023

37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S2

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 › NF2

CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Li Q et al.

Science Advances, 2022

35544644 (PubMed )
Supplement: sciadv.abj1624_table_s3.zip › sciadv.abj1624_table_s3.xlsx › Supp-Table-3

Prognostic impact of genetic alterations and methylation classes in meningioma.

Berghoff AS et al.

Brain Pathology (zurich, Switzerland), 2022

35213082 (PubMed )
Supplement: BPA-32-e12970-s001.xlsx › Sheet1

Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Moore A et al.

Medicine, 2021

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Mansouri S et al.

Acta Neuropathologica, 2021

33025139 (PubMed )
Supplement: 401_2020_2230_MOESM1_ESM.pdf

Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer.

Sirohi D et al.

The Journal of Molecular Diagnostics : Jmd, 2020

Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.

DE Carvalho RM et al.

Anticancer Research, 2018

Genetic landscape of sporadic vestibular schwannoma.

Håvik AL et al.

Journal of Neurosurgery, 2018

Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.

Bonne N- et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.

Lee JD et al.

Plos One, 2012

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Evans DG et al.

Journal of Medical Genetics, 1998

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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."