
目标外显子组捕获测序发现INPP5E突变致Joubert综合征1例
罗敏娜1刘志敏2沈玥1王昊2曹宗富1陈西华1马斯禹1,3高华方1
中国计划生育学杂志 ›› 2018, Vol. 26 ›› Issue (5) : 400.
目标外显子组捕获测序发现INPP5E突变致Joubert综合征1例
Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing
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