Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.P482_P483Splc
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NF2

NM_000268.4:p.P482_P483Splc

Associated Papers

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA et al.

Neuro-oncology, 2023

37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S6

Impact of a cell cycle and an extracellular matrix remodeling transcriptional signature on tumor progression and correlation with EZH2 expression in meningioma.

Pereira BJA et al.

Journal of Neurosurgery, 2023

36029259 (PubMed )
Supplement: SupplementaryFiguresandTables_JNS22-953.zip › SupplementaryTables_JNS22-953.xlsx › Suppl_Table_1-somatic_mutations

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

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

Evans DG et al.

The Laryngoscope, 2019

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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."