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Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

Marina T. DiStefano,Sarah E. Hemphill,Brandon J. Cushman,Mark J. Bowser,Elizabeth Hynes,Andrew R. Grant,Rebecca K. Siegert,Andrea M. Oza,Michael A. Gonzalez,Sami S. Amr,Heidi L. Rehm,Ahmad N. Abou Tayoun

Journal of Molecular Diagnostics（2018）

引用 24|浏览66
关键词
transcript quantification,sequence variation,Sequence Interpretation,genome annotation,Multiplex Genome Editing
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