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Article

Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene.

Human mutation - 1 Jan 1998

Skuse G R

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

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 9452038
DOI: 10.1002/humu.1380110117

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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Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene.PMID 9452038Read ↗

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Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.Semantic proximity Read ↗

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