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Pathogenic variants in nucleoporin TPR (translocated promot..:
Van Bergen, Nicole J
;
Bell, Katrina M
;
Carey, Kirsty
...
Human Molecular Genetics. 31 (2021) 3 - p. 362-375 , 2021
Link:
https://doi.org/10.1093/hmg/ddab248
RT Journal T1
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddab248&Exemplar=1&LAN=DE A1 Van Bergen, Nicole J A1 Bell, Katrina M A1 Carey, Kirsty A1 Gear, Russell A1 Massey, Sean A1 Murrell, Edward K A1 Gallacher, Lyndon A1 Pope, Kate A1 Lockhart, Paul J A1 Kornberg, Andrew A1 Pais, Lynn A1 Walkiewicz, Marzena A1 Simons, Cas A1 Wickramasinghe, Vihandha O A1 White, Susan M A1 Christodoulou, John A1 MCRI Rare Diseases Flagship PB Oxford University Press (OUP) YR 2021 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 31 IS 3 SP 362 OP 375 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddab248 DO https://doi.org/10.1093/hmg/ddab248 SF ELIB - SuUB Bremen
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