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1 Ergebnisse
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Characterization of a novel deep-intronic variant in DYNC2H..:
Buchh, Muqsit
;
Gillespie, Patrick J
;
Treat, Kayla
...
10.1101/mcs.a006254. , 2022
Link:
https://hdl.handle.net/1805/36398
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=base-ftiupui:oai:scholarworks.iupui.edu:1805_36398&Exemplar=1&LAN=DE A1 Buchh, Muqsit A1 Gillespie, Patrick J A1 Treat, Kayla A1 Abreu, Marco A A1 Schwantes-An, Tae-Hwi Linus A1 Helm, Benjamin M A1 Fang, Fang A1 Xuei, Xiaoling A1 Mantcheva, Lili A1 Suhrie, Kristen R A1 Graham, Brett H A1 Conboy, Erin A1 Vetrini, Francesco PB Cold Spring Harbor Laboratory YR 2022 K1 Ambiguous genitalia K1 Male K1 Bilateral postaxial polydactyly K1 Deformed rib cage K1 Hydronephrosis K1 Lethal skeletal dysplasia K1 Patent foramen ovale K1 Rhizomelic arm shortening JF 10.1101/mcs.a006254 LK http://dx.doi.org/https://hdl.handle.net/1805/36398 DO https://hdl.handle.net/1805/36398 SF ELIB - SuUB Bremen
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