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1 Ergebnisse
1
AHomozygous PPP1R21 Splice Variant Associated with Severe D..:
Hentschel, Andreas
;
Meyer, Nancy
;
Kohlschmidt, Nicolai
...
Molecular Neurobiology. 60 (2023) 5 - p. 2602-2618 , 2023
Link:
https://doi.org/10.1007/s12035-023-03219-9
RT Journal T1
AHomozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s12035-023-03219-9&Exemplar=1&LAN=DE A1 Hentschel, Andreas A1 Meyer, Nancy A1 Kohlschmidt, Nicolai A1 Groß, Claudia A1 Sickmann, Albert A1 Schara-Schmidt, Ulrike A1 Förster, Fabian A1 Töpf, Ana A1 Christiansen, Jon A1 Horvath, Rita A1 Vorgerd, Matthias A1 Thompson, Rachel A1 Polavarapu, Kiran A1 Lochmüller, Hanns A1 Preusse, Corinna A1 Hannappel, Luis A1 Schänzer, Anne A1 Grüneboom, Anika A1 Gangfuß, Andrea A1 Roos, Andreas PB Springer Science and Business Media LLC YR 2023 SN 0893-7648 SN 1559-1182 JF Molecular Neurobiology VO 60 IS 5 SP 2602 OP 2618 LK http://dx.doi.org/https://doi.org/10.1007/s12035-023-03219-9 DO https://doi.org/10.1007/s12035-023-03219-9 SF ELIB - SuUB Bremen
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