Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.R172_V173Splc
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NF2

NM_000268.4:p.R172_V173Splc

Associated Papers

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

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_3_TC_var

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.

Ellis JR et al.

Genes, Chromosomes & Cancer, 2011

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

Demange L et al.

Revue Neurologique, 2007

First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2).

Abou-Sleiman PM et al.

Prenatal Diagnosis, 2002

Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders.

Harper JC et al.

Prenatal Diagnosis, 2002

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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."