Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E38_M39Splc
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NF2

NM_000268.4:p.E38_M39Splc

Associated Papers

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

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

Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.

Mortazavipour MM et al.

Hemoglobin, 2020

The role of NF2 gene mutations and pathogenesis-related proteins in sporadic vestibular schwannomas in young individuals.

Chen H et al.

Molecular and Cellular Biochemistry, 2014

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Clark VE et al.

Science (new York, N.y.), 2013

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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."