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Article

Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations.

Journal of human genetics - 1 Dec 2023

Pan Xin, Liu Sihan, Feng Xiaoshu, Liu Li, Zhang Xu, Qian Guanhua, Liang Na, Yao Hong, Dong Xiaojing, Tan Bo

Abstract excerpt

The human SET nuclear proto-oncogene (SET) gene is a protein-coding gene that encodes proteins that affects chromatin remodeling and gene transcription. Mutations in the SET gene have been reported to cause intellectual disability (ID) and epilepsy. In this study, we collected and analyzed clinical, genetic, and transcript features of two unrelated Chinese patients with ID. Both patients were characterized by...

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PMID: 37737486
DOI: 10.1038/s10038-023-01196-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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