Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
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Title
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Authors
Keywords
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Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 131, Issue 1, Pages -
Publisher
American Society for Clinical Investigation
Online
2020-10-02
DOI
10.1172/jci141500
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