Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.W258*
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NF2

NM_000268.4:p.W258*

Associated Papers

Unusual fundus lesion in mosaic neurofibromatosis type 2.

Berry MH et al.

Ophthalmic Genetics, 2025

Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study.

Alexiev BA et al.

Pathology, Research and Practice, 2024

A novel NF2 splicing mutant causes neurofibromatosis type 2 via liquid-liquid phase separation with large tumor suppressor and Hippo pathway.

Jia Z et al.

Iscience, 2022

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

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Teranishi Y et al.

Scientific Reports, 2022

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y et al.

Journal of Medical Genetics, 2021

Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.

Quetel L et al.

Molecular Oncology, 2020

32083805 (PubMed )
Supplement: MOL2-14-1207-s005.xlsx › Table_S4

Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas.

Goutagny S et al.

Journal of Neuro-oncology, 2015

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

Familial schwannomatosis: exclusion of the NF2 locus as the germline event.

MacCollin M et al.

Neurology, 2003

Detection of novel NF2 mutations by an RNA mismatch cleavage method.

Faudoa R et al.

Human Mutation, 2000

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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."