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Article

Loss of function of ADNP by an intragenic inversion.

European journal of human genetics : EJHG - 1 Aug 2023

Georget Mathieu, Lejeune Elodie, Buratti Julien, Servant Euphrasie, le Guern Eric, Heron Delphine, Keren Boris, de Sainte Agathe Jean-Madeleine

Abstract excerpt

ADNP is a well-known gene implicated in intellectual disability and its molecular spectrum consists mainly in loss of function variant in the ADNP last and largest exon. Here, we report the first description of a patient with intellectual disability identified with an intragenic inversion in ADNP. RNAseq experiment showed a splice skipping of the inversed exons. Moreover, in-silico analysis of initiating ATGs in...

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Identifiers

PMID: 36828924
DOI: 10.1038/s41431-023-01323-x
PMCID: PMC10400548

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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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