Copy number variants in a large cohort analysed with whole-exome sequencing: lessons for genetic diagnosis

被引:0
|
作者
Lopes, Fatima [1 ,2 ]
Lopes, Alexandra M. [1 ,2 ]
Silva, Paulo [1 ,2 ]
Sousa, Susana [1 ,2 ]
Morais, Sara [1 ,2 ]
Sa, Joana [1 ,2 ]
Brandao, Ana Filipa [1 ,2 ]
Lopes, Ana [1 ,2 ]
Bastos-Ferreira, Rita [1 ,2 ]
Freixo, Joao Parente [1 ,2 ]
Sequeiros, Jorge [1 ,2 ]
Oliveira, Jorge [1 ,2 ]
机构
[1] Univ Porto, CGPP, IBMC, Ctr Genet Predit & Prevent,Inst Biol Mol & Celula, Porto, Portugal
[2] Univ Porto, I3S Inst Invest & Inovacao Saude, Porto, Portugal
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P16.004.C
引用
收藏
页码:470 / 470
页数:1
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