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Article

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

European journal of human genetics : EJHG - 1 Mar 2015

Larti Farzaneh, Kahrizi Kimia, Musante Luciana, Hu Hao, Papari Elahe, Fattahi Zohreh, Bazazzadegan Niloofar, Liu Zhe, Banan Mehdi, Garshasbi Masoud, Wienker Thomas F, Ropers H Hilger, Galjart Niels, Najmabadi Hossein

Abstract excerpt

In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score = 3.7). Next-generation sequencing (NGS) following exon enrichment in this novel interval, detected a nonsense mutation (p.Q1010*) in the CLIP1...

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Identifiers

PMID: 24569606
DOI: 10.1038/ejhg.2014.13
PMCID: PMC4326716

Genes

CLIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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