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Article

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.

Genomics - 15 May 2000

Jenne D E, Tinschert S, Stegmann E, Reimann H, Nürnberg P, Horn D, Naumann I, Buske A, Thiel G

Abstract excerpt

Large deletions of the NF1 locus occur in 5 to 10% of patients with neurofibromatosis and are commonly associated with specific additional abnormalities characterized by mental retardation, dysmorphic features, and intellectual impairment. To characterize the extent of codeleted genes we constructed a long-range physical BAC/PAC map around the NF1 locus between D17S117 and D17S57 and determined the deletion...

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Source

Identifiers

PMID: 10843809
DOI: 10.1006/geno.2000.6179

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OMG

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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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