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Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

机译：外显子组测序在意大利患有BAG3肌原肌肌病的患者中鉴定出两个编码LIM蛋白NRAP和FHL1的基因的变异

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Francesca D’Avila; Mirella Meregalli; Sara Lupoli; Matteo Barcella; Alessandro Orro; Francesca De Santis; Clementina Sitzia; Andrea Farini; Pasqualina D’Ursi; Silvia Erratico; Riccardo Cristofani; Luciano Milanesi; Daniele Braga; Daniele Cusi; Angelo Poletti; Cristina Barlassina; Yvan Torrente;
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1. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy [J] . DAvila Francesca, Meregalli Mirella, Lupoli Sara, Journal of Muscle Research and Cell Motility . 2016,第3期

机译：外显子组测序在意大利患有BAG3肌原肌肌病的患者中鉴定出两个编码LIM蛋白NRAP和FHL1的基因的变异
2. Novel pathogenic variants and genes for myopathies identified by whole exome sequencing [J] . Ahmet Kurdoglu, Christopher D. Balak, Daphne E. DeMello, Molecular Genetics & Genomic Medicine . 2015,第4期

机译：通过全外显子组测序鉴定的新型肌病致病变异和基因
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. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy [O] . Francesca D’Avila, Mirella Meregalli, Sara Lupoli, -1

机译：外显子组测序在意大利患有BAG3肌原肌肌病的患者中鉴定出两个编码LIM蛋白NRAP和FHL1的基因的变异
7. Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy [O] . Norton, Nadine, Li, Duanxiang, Rieder, Mark J., 2011

机译：拷贝数变异和外显子组测序的全基因组研究确定BAG3的罕见变异是扩张型心肌病的原因

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

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