Whole-exome sequencing reveals five unreported EP300 gene novel variants causing Rubinstein-Taybi syndrome type 2 in Chinese children
收藏DataCite Commons2025-08-12 更新2025-09-08 收录
下载链接：
https://figshare.com/articles/dataset/Whole-exome_sequencing_reveals_five_unreported_EP300_gene_novel_variants_causing_Rubinstein-Taybi_syndrome_type_2_in_Chinese_children/29886413/1
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资源简介：
This study reports five novel pathogenic <i>EP300</i> variants, expanding the mutational repertoire of RSTS2 and providing an important basis for clinical diagnosis and genetic counseling.
提供机构：
figshare
创建时间：
2025-08-12
