Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L517P
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NF2

NM_000268.4:p.L517P

Associated Papers

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

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

Angiomotin binding-induced activation of Merlin/NF2 in the Hippo pathway.

Li Y et al.

Cell Research, 2015

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I et al.

Human Mutation, 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."