P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
Main Authors: | Muqsit Buchh, Patrick Gillespie, Kayla Treat, Marco Abreu, Tae-Hwi Schwantes-An, Benjamin Helm, Fang Fang, Xaoling Xuei, Lili Mantcheva, Kristen Suhrie, Brett Graham, Erin Conboy, Francesco Vetrini |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2023-01-01
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Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423004806 |
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