Identification and validation of loss of function variants in clinical contexts.

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作者： Francesco,Lescai ^[1] ; Elena,Marasco ^[2] ; Chiara,Bacchelli ^[3] ; Philip,Stanier ^[3] ; Vilma,Mantovani ^[4] ; Philip,Beales ^[3]

作者单位： University College London, Institute of Child Health, GOSgene team London, U.K ; Department of Biomedicine, Human Genetics, Aarhus University Aarhus, Denmark. ^[1] CRBA Centro Ricerca Biomedica Applicata, Azienda Ospedaliero-Universitaria Policlinico S. Orsola - Malpighi Bologna, Italy. ^[2] University College London, Institute of Child Health, GOSgene team London, U.K. ^[3] Department of Biomedicine, Human Genetics, Aarhus University Aarhus, Denmark. ^[4]

关键词 GATK pipelines sequencing variant calling

DOI 10.1002/mgg3.42

PMID 24498629

发布时间 2022-01-29

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Molecular genetics & genomic medicine

2014年2卷1期

58-63页

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Identification and validation of loss of function variants in clinical contexts.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Identification and validation of loss of function variants in clinical contexts.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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