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Article

Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.

Journal of human genetics - 1 Jun 2026

Hayashi Taiju, Miyamoto Sachiko, Endo Yusaku, Shimizu Kenji, Ohkubo Yumiko, Komatsu Kazuyuki, Furukawa Shogo, Nakashima Mitsuko, Fukuda Tokiko, Ogata Tsutomu, Hiraide Takuya, Saitsu Hirotomo

Abstract excerpt

The importance of 5'-untranslated region (5'-UTR) variants in genetic diseases has become increasingly recognized. However, systematic frameworks for interpreting their pathogenic mechanisms remain underdeveloped. We performed genome sequencing (GS) or reanalyzed exome sequencing (ES) data from patients with neurodevelopmental disorders in whom no pathogenic variants had previously been identified, and searched...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41491245
DOI: 10.1038/s10038-025-01446-7

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ATRX
POU3F3

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