Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.P482_P483Splc
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NF2

NM_000268.4:p.P482_P483Splc

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

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

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

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Mansouri S et al.

Acta Neuropathologica, 2021

33025139 (PubMed )
Supplement: 401_2020_2230_MOESM1_ESM.pdf
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