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SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy

机译：SAT-574全外壳测序鉴定了一种与免疫缺陷，发炎病变和非缺血性扩张的患者相关的若干变体，在具有所获得的广义脂肪脂肪的复杂情况下

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Marjorie Azevedo Jales Brandao; Maria Cristina Foss de Freitas; Baris Akinci; Mark Hannibal; Kelly Walkovich; Elif A Oral;
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1. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy [J] . Molecular medicine reports . 2020,第6期

机译：通过先天性广义唇脂肾上腺素鉴定的全外膜测序和多重结扎依赖性探针扩增的新型化合物杂合变体
2. A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy [J] . Zhang Shu-Bing, Liu Yu-Xing, Fan Liang-Liang, Annals of Human Genetics . 2019,第Pta2期

机译：一种新的杂合变体p。（TRP538ARG）Synm的全面测序鉴定了一种膨胀的心肌病
3. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. [J] . Norton N, Li D, Rieder MJ, The American Journal of Human Genetics . 2011,第3期

机译：全基因组研究的拷贝数变异和外显子组测序确定BAG3中罕见的变异是导致扩张型心肌病的原因。
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy [O] . Marjorie Azevedo Jales Brandao, Maria Cristina Foss de Freitas, Baris Akinci, 2020

机译：SAT-574全外壳测序鉴定了一种与免疫缺陷发炎病变和非缺血性扩张的患者相关的若干变体在具有所获得的广义脂肪脂肪的复杂情况下
6. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy [O] . Bobo Xie, Xin Fan, Yaqin Lei, 2020

机译：通过先天性广义唇脂肾上腺素鉴定的全外膜测序和多重结扎依赖性探针扩增的新型化合物杂合变体

SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy

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