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Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Published Print: 2020-07

Authors

Aicher, Joseph K.

Jewell, Paul

Vaquero-Garcia, Jorge

Barash, Yoseph

Bhoj, Elizabeth J. https://orcid.org/0000-0001-5748-3507
Funding

Funding for this research was provided by:

National Institute of General Medical Sciences (R01GM128096)
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Text and Data Mining valid from 2020-07-01

Version of Record valid from 2022-01-19
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This article is maintained by: Elsevier

Article Title: Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-0780-y

Content Type: article

Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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