Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q538*
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NF2

NM_000268.4:p.Q538*

Associated Papers

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

Douwes JPJ et al.

Cancers, 2025

39941762 (PubMed )
Supplement: cancers-17-00393-s001.zip › Table_S1-Patient_Characteristics___Genetics.xlsx › Genetics_-_Data

Clinical and molecular validation of BAP1, MTAP, P53, and Merlin immunohistochemistry in diagnosis of pleural mesothelioma.

Chapel DB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

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

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

Demange L et al.

Revue Neurologique, 2007

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.

Evans DG et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 1999

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Evans DG et al.

Journal of Medical Genetics, 1998

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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."