Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.R447Splc
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NF2

NM_000268.4:p.R447Splc

Associated Papers

Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Douwes JPJ et al.

Cancers, 2025

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Teranishi Y et al.

Scientific Reports, 2022

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y et al.

Journal of Medical Genetics, 2021

Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.

Chen H et al.

Scientific Reports, 2017

28710469 (PubMed )
Supplement: 41598_2017_5769_MOESM2_ESM.xlsx › Table_S1

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.

Ellis JR et al.

Genes, Chromosomes & Cancer, 2011

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.

Hansson CM et al.

Bmc Genomics, 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."