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1 Ergebnisse
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P433: A novel deep intronic variant in DYNC2H1 characterize..:
Muqsit Buchh
;
Patrick Gillespie
;
Kayla Treat
...
http://www.sciencedirect.com/science/article/pii/S2949774423004806. , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100480
RT Journal T1
P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:4f4a06a6b1334000b632b4fc859dd40d&Exemplar=1&LAN=DE A1 Muqsit Buchh A1 Patrick Gillespie A1 Kayla Treat A1 Marco Abreu A1 Tae-Hwi Schwantes-An A1 Benjamin Helm A1 Fang Fang A1 Xaoling Xuei A1 Lili Mantcheva A1 Kristen Suhrie A1 Brett Graham A1 Erin Conboy A1 Francesco Vetrini PB Elsevier YR 2023 K1 Genetics K1 QH426-470 K1 Medicine K1 R JF http://www.sciencedirect.com/science/article/pii/S2949774423004806 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100480 DO https://doi.org/10.1016/j.gimo.2023.100480 SF ELIB - SuUB Bremen
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