Whole-exome sequencing reveals five unreported EP300 gene novel variants causing Rubinstein-Taybi syndrome type 2 in Chinese children
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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.
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Zhang, Qiang创建时间：
2025-08-12
