Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E357_R359del3
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NF2

NM_000268.4:p.E357_R359del3

Associated Papers

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.

Evans DG et al.

Journal of Medical Genetics, 2023

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.

Oishi N et al.

Scientific Reports, 2023

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

Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.

Tabernero M et al.

Bmc Medical Genetics, 2013

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

Wallace AJ et al.

Genetic Testing, 2004

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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."