Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.R200Splc
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NF2

NM_000268.4:p.R200Splc

Associated Papers

Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Douwes JPJ et al.

Cancers, 2025

39941762 (PubMed )
Supplement: cancers-17-00393-s001.zip › Table_S1-Patient_Characteristics___Genetics.xlsx › Genetics_-_Data

Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults.

Gugel I et al.

Frontiers in Neurology, 2018

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

Wallace AJ et al.

Genetic Testing, 2004

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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."