Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.A190delFs
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NF2

NM_000268.4:p.A190delFs

Associated Papers

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H et al.

Human Genetics, 2017

27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

Smith MJ et al.

Neurology, 2017

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Smith MJ et al.

Neurology, 2015

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."