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Article

A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.

Neurology - 1 Aug 1996

Scoles D R, Baser M E, Pulst S M

Abstract excerpt

We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. This mutation was previously reported in an unrelated family in which all affected individuals had mild phenotypes. These data demonstrate a lack of correlation between NF2 genotype and NF2 phenotype for this mutation.

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Source

Identifiers

PMID: 8757035
DOI: 10.1212/wnl.47.2.544

Provenance

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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