Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing

LUO Minna1, LIU Zhimin2，SHEN Yue1, WANG Hao2, CAO Zongfu1, CHEN Xihua1,MA Siyu1,3,GAO Huafang1, XU Baoping2, PENG Yun2, MA Xu1*

Chinese Journal of Family Planning ›› 2018, Vol. 26 ›› Issue (5) : 400.

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Chinese Journal of Family Planning
Chinese Journal of Family Planning ›› 2018, Vol. 26 ›› Issue (5) : 400.

Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing

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{{article.zuoZheEn_L}}. {{article.title_en}}[J]. {{journal.qiKanMingCheng_EN}}, 2018, 26(5): 400

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