Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

Human genetics - 1 Apr 1995

Kluwe L, Pulst S M, Köppen J, Mautner V F

Abstract excerpt

We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Child, Preschool
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Neoplasm

Share to Gene Deletion

Share to Genotype

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 7705843
DOI: 10.1007/BF00208973

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].PMID 7705843Read ↗

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.Semantic proximity Read ↗

[Type 2 neurofibromatosis without acoustic neuroma].Semantic proximity Read ↗

Neurofibromatosis type 2: genetic and clinical features.Semantic proximity Read ↗

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.Semantic proximity Read ↗

Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.Semantic proximity Read ↗

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.Semantic proximity Read ↗

Further genotype--phenotype correlations in neurofibromatosis 2.Semantic proximity Read ↗

Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.Semantic proximity Read ↗

[NF2: ocular, neural and genetic manifestations].Semantic proximity Read ↗

Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).Semantic proximity Read ↗

[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].Semantic proximity Read ↗

Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.