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Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigre
[期刊论文] 作者：HaoChanjuan,GuoJun,GuoRuolan,QiZhan,LiWei,NiXin,
来源：儿科学英文 年份：2018
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Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-C
[期刊论文] 作者：ZhangPengfei,HuXuyun,GuoRuolan,GuoJun,LiWei,QianSuyun,HaoChanjuan,LiuJun,
来源：儿科学英文 年份：2019
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Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with l
[期刊论文] 作者：SunQiqing,GuoJun,HaoChanjuan,GuoRuolan,HuXuyun,ChenYuanying,YangWeili,LiWei,FengYingjun,
来源：儿科学英文 年份：2020
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