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Article

Molecular Insights into IQSEC2 Disease.

International journal of molecular sciences - 5 Mar 2023

Levy Nina S, Borisov Veronika, Lache Orit, Levy Andrew P

Abstract excerpt

Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of numerous missense mutations that delineate at least six and possibly seven essential functional domains present in the IQSEC2 gene. (2) Experiments using IQSEC2 transgenic and knockout (KO) mouse models have recapitulated the presence of autistic-like behavior...

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Identifiers

PMID: 36902414
DOI: 10.3390/ijms24054984
PMCID: PMC10003148

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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