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Genetic and genomic studies of pathogenic EXOSC2 mutations ..:
Lu, Bingwei
;
Khavari, Paul
;
Rump, Andreas
...
Human Molecular Genetics. 29 (2019) 4 - p. 541-553 , 2019
Link:
https://doi.org/10.1093/hmg/ddz251
RT Journal T1
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddz251&Exemplar=1&LAN=DE A1 Lu, Bingwei A1 Khavari, Paul A1 Rump, Andreas A1 Li, Chenjian A1 Tao, Shiying A1 Sun, Tao A1 Lopez-Pajares, Vanessa A1 Siprashvili, Zurab A1 Zarnegar, Brian A1 Zhao, Yang A1 DiDonato, Nataliya A1 Bayat, Vafa A1 Yang, Xue PB Oxford University Press (OUP) YR 2019 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 29 IS 4 SP 541 OP 553 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddz251 DO https://doi.org/10.1093/hmg/ddz251 SF ELIB - SuUB Bremen
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