Schoch, Kelly
Tan, Queenie K.-G.
Stong, Nicholas
Deak, Kristen L.
McConkie-Rosell, Allyn
McDonald, Marie T.
Goldstein, David B.
Jiang, Yong-hui
Shashi, Vandana http://orcid.org/0000-0002-5011-7501
Funding for this research was provided by:
National Institutes of Health (U01HG007672)
This article is maintained by: Elsevier
Article Title: Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-0781-x
Content Type: article
Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics