Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

MLA

Buchh, Muqsit, et al. “Characterization of a Novel Deep-Intronic Variant in DYNC2H1 Identified by Whole-Exome Sequencing in a Patient with a Lethal Form of a Short-Rib Thoracic Dysplasia Type III.” Cold Spring Harbor Molecular Case Studies, vol. 8, no. 7, Dec. 2022, pp. 1–11. EBSCOhost, https://doi.org/10.1101/mcs.a006254.

APA

Buchh, M., Gillespie, P. J., Treat, K., Abreu, M. A., Schwantes-An, T.-H. L., Helm, B. M., Fang Fang, Xiaoling Xuei, Mantcheva, L., Suhrie, K. R., Graham, B. H., Conboy, E., & Vetrini, F. (2022). Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. Cold Spring Harbor Molecular Case Studies, 8(7), 1–11. https://doi.org/10.1101/mcs.a006254

Chicago

Buchh, Muqsit, Patrick J. Gillespie, Kayla Treat, Marco A. Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M. Helm, Fang Fang, et al. 2022. “Characterization of a Novel Deep-Intronic Variant in DYNC2H1 Identified by Whole-Exome Sequencing in a Patient with a Lethal Form of a Short-Rib Thoracic Dysplasia Type III.” Cold Spring Harbor Molecular Case Studies 8 (7): 1–11. doi:10.1101/mcs.a006254.