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Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease

Joseph K Aicher1,2, Paul Jewell1,3, Jorge Vaquero-Garcia1,3

  • 1Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 1, 2020
PubMed
Abstract

Keywords:
RNA-seqalternative splicingclinical geneticsdiagnostic markersmedical genetics

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