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Article

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

Nature genetics - 1 Feb 1994

Bianchi A B, Hara T, Ramesh V, Gao J, Klein-Szanto A J, Morin F, Menon A G, Trofatter J A, Gusella J F, Seizinger B R

Abstract excerpt

The neurofibromatosis 2 gene (NF2) has recently been isolated and predicted to encode a novel protein related to the moesin-ezrin-radixin family of cytoskeleton-associated proteins. Here we describe a novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modified C terminus of the predicted protein. Mutations affecting both isoforms of the NF2 transcript were detected in...

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PMID: 8162073
DOI: 10.1038/ng0294-185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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