Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.K525Splc
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NF2

NM_000268.4:p.K525Splc

Associated Papers

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.

Tritto V et al.

International Journal of Molecular Sciences, 2022

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

Evans DG et al.

The Laryngoscope, 2019

[Phenotype-genotype study in 154 French NF2 mutation carriers].

Demange L et al.

Revue Neurologique, 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."