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Article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

European journal of human genetics : EJHG - 1 May 2008

Steinmann Katharina, Kluwe Lan, Cooper David N, Brems Hilde, De Raedt Thomas, Legius Eric, Mautner Viktor-Felix, Kehrer-Sawatzki Hildegard

Abstract excerpt

Gross deletions of the NF1 gene at 17q11.2 belong to the group of 'genomic disorders' characterized by local sequence architecture that predisposes to genomic rearrangements. Segmental duplications within regions associated with genomic disorders are prone to non-allelic homologous recombination (NAHR), which mediates gross rearrangements. Copy number variants (CNVs) without obvious phenotypic consequences also...

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

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Source

Identifiers

PMID: 18212816
DOI: 10.1038/sj.ejhg.5202002

Genes

RHOT1
SUZ12

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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