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Article

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi-Pena syndrome.

European journal of medical genetics - 1 Apr 2022

Jiao Zhihui, Zhao Xuechao, Wang Yanhong, Wei Erhu, Mei Shiyue, Liu Ning, Kong Xiangdong, Shi Huirong

Abstract excerpt

This ASXL2 gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Recent research has found that pathogenic variants in ASXL2 gene can lead to Shashi-Pena syndrome. However, clinical reports of individuals with damaging ASXL2 variants were limited and clinical phenotypic information...

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PMID: 35182806
DOI: 10.1016/j.ejmg.2022.104454

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