Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E38_M39Splc
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NF2

NM_000268.4:p.E38_M39Splc

Associated Papers

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 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

Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.

Bonne N- et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9

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

Ellis JR et al.

Genes, Chromosomes & Cancer, 2011

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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."