Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
利用外显子组测序鉴定罕见儿童神经系统疾病的致病变异
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-75020-0
Komatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo