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Article

An updated and upgraded L1CAM mutation database.

Human mutation - 1 Jan 2010

Vos Yvonne J, Hofstra Robert M W

Abstract excerpt

The L1 syndrome is an X-linked recessive disease caused by mutations in the L1CAM gene. To date more than 200 different mutations have been reported, scattered over the entire gene, about 35% being missense mutations. Although it is tempting to consider these missense mutations as being disease-c...

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Identifiers

PMID: 19953645
DOI: 10.1002/humu.21172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19953645-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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