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Biallelic variants in the RNA exosome gene EXOSC5 are assoc..:
Slavotinek, Anne
;
Misceo, Doriana
;
Htun, Stephanie
...
Human Molecular Genetics. 29 (2020) 13 - p. 2218-2239 , 2020
Link:
https://doi.org/10.1093/hmg/ddaa108
RT Journal T1
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddaa108&Exemplar=1&LAN=DE A1 Slavotinek, Anne A1 Misceo, Doriana A1 Htun, Stephanie A1 Mathisen, Linda A1 Frengen, Eirik A1 Foreman, Michelle A1 Hurtig, Jennifer E A1 Enyenihi, Liz A1 Sterrett, Maria C A1 Leung, Sara W A1 Schneidman-Duhovny, Dina A1 Estrada-Veras, Juvianee A1 Duncan, Jacque L A1 Haaxma, Charlotte A A1 Kamsteeg, Erik-Jan A1 Xia, Vivian A1 Beleford, Daniah A1 Si, Yue A1 Douglas, Ganka A1 Treidene, Hans Einar A1 van Hoof, Ambro A1 Fasken, Milo B A1 Corbett, Anita H PB Oxford University Press (OUP) YR 2020 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 29 IS 13 SP 2218 OP 2239 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddaa108 DO https://doi.org/10.1093/hmg/ddaa108 SF ELIB - SuUB Bremen
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