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Article

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.

American journal of human genetics - 1 Mar 2000

Stokowski R P, Cox D R

Abstract excerpt

Despite intense study of the neurofibromatosis type 2 (NF2) tumor-suppressor protein merlin, the biological properties and tumor-suppressor functions of merlin are still largely unknown. In this study, we examined the molecular activities of NF2-causing mutant merlin proteins in transfected mammalian cells, to elucidate the merlin properties that are critical for tumor-suppressor function. Most important, we...

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Identifiers

PMID: 10712203
DOI: 10.1086/302812
PMCID: PMC1288182

Genes

EBP

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.PMID 10712203Read ↗

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The Neurofibromatosis Type 2 Gene Product, merlin, Reverses the F-Actin Cytoskeletal Defects in Primary Human Schwannoma CellsSemantic proximity Read ↗

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