Whole exome sequencing with comprehensive gene set analysis identified a biparental-origin homozygous c.509G>a mutation in PPIB gene clustered in two taiwanese families exhibiting fetal skeletal dysplasia during prenatal ultrasound
Ting Yu Chang, I. Fang Chung, Wan Ju Wu, Shun Ping Chang, Wen Hsiang Lin, Norman A. Ginsberg, Gwo Chin Ma*, Ming Chen
深入研究「Whole exome sequencing with comprehensive gene set analysis identified a biparental-origin homozygous c.509G>a mutation in PPIB gene clustered in two taiwanese families exhibiting fetal skeletal dysplasia during prenatal ultrasound」主題。共同形成了獨特的指紋。