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TNPO2 variants associate with human developmental delays, n..:
Goodman, Lindsey D.
;
Cope, Heidi
;
Nil, Zelha
...
The American Journal of Human Genetics. 108 (2021) 9 - p. 1669-1691 , 2021
Link:
https://doi.org/10.1016/j.ajhg.2021.06.019
RT Journal T1
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2021.06.019&Exemplar=1&LAN=DE A1 Goodman, Lindsey D. A1 Cope, Heidi A1 Nil, Zelha A1 Ravenscroft, Thomas A. A1 Charng, Wu-Lin A1 Lu, Shenzhao A1 Tien, An-Chi A1 Pfundt, Rolph A1 Koolen, David A. A1 Haaxma, Charlotte A. A1 Veenstra-Knol, Hermine E. A1 Wassink-Ruiter, Jolien S. Klein A1 Wevers, Marijke R. A1 Jones, Melissa A1 Walsh, Laurence E. A1 Klee, Victoria H. A1 Theunis, Miel A1 Legius, Eric A1 Steel, Dora A1 Barwick, Katy E.S. A1 Kurian, Manju A. A1 Mohammad, Shekeeb S. A1 Dale, Russell C. A1 Terhal, Paulien A. A1 van Binsbergen, Ellen A1 Kirmse, Brian A1 Robinette, Bethany A1 Cogné, Benjamin A1 Isidor, Bertrand A1 Grebe, Theresa A. PB Elsevier BV YR 2021 SN 0002-9297 JF The American Journal of Human Genetics VO 108 IS 9 SP 1669 OP 1691 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2021.06.019 DO https://doi.org/10.1016/j.ajhg.2021.06.019 SF ELIB - SuUB Bremen
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