Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q453*
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NF2

NM_000268.4:p.Q453*

Associated Papers

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.

Chen H et al.

Scientific Reports, 2017

28710469 (PubMed )
Supplement: 41598_2017_5769_MOESM2_ESM.xlsx › Table_S1

Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Chen YB et al.

Nature Communications, 2016

27713405 (PubMed )
Supplement: ncomms13131-s3.xlsx › All_mutations

SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis.

Hulsebos TJ et al.

The American Journal of Surgical Pathology, 2014

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Clark VE et al.

Science (new York, N.y.), 2013

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."