Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

标题
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
作者
关键词
RNA-seq, transcriptomics, diagnostics, Mendelian disease, transdifferentiation, myotubes, muscular dystrophy
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 104, Issue 3, Pages 466-483
出版商
Elsevier BV
发表日期
2019-02-28
DOI
10.1016/j.ajhg.2019.01.012

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