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Biallelic variants in PSMB1 encoding the proteasome subunit..:
Antonarakis, Stylianos E
;
Bachmann-Gagescu, Ruxandra
;
Krüger, Elke
...
Human Molecular Genetics. 29 (2020) 7 - p. 1132-1143 , 2020
Link:
https://doi.org/10.1093/hmg/ddaa032
RT Journal T1
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddaa032&Exemplar=1&LAN=DE A1 Antonarakis, Stylianos E A1 Bachmann-Gagescu, Ruxandra A1 Krüger, Elke A1 Ahmed, Jawad A1 Sarwar, Muhammad T A1 Santoni, Federico A A1 Ranza, Emmanuelle A1 Zoete, Vincent A1 Gesemann, Matthias A1 Iwaszkiewicz, Justyna A1 Paracha, Sohail A A1 Özkoç, Hayriye A1 Ebstein, Frédéric A1 Ansar, Muhammad PB Oxford University Press (OUP) YR 2020 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 29 IS 7 SP 1132 OP 1143 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddaa032 DO https://doi.org/10.1093/hmg/ddaa032 SF ELIB - SuUB Bremen
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