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Article

A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability.

Scientific reports - 9 Jul 2024

Vinci Mirella, Treccarichi Simone, Galati Rando Rosanna, Musumeci Antonino, Todaro Valeria, Federico Concetta, Saccone Salvatore, Elia Maurizio, Calì Francesco

Abstract excerpt

E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). In the current study, a de novo heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38982159
DOI: 10.1038/s41598-024-66475-2
PMCID: PMC11233510

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