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A Homozygous PPP1R21 Splice Variant Associated with Severe ..:
Hentschel, Andreas
;
Meyer, Nancy
;
Kohlschmidt, Nicolai
...
ISSN:0893-7648. , 2023
Link:
https://oa.tib.eu/renate/handle/123456789/12244
RT Journal T1
A Homozygous 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=base-fttibhannoverren:oai:oa.tib.eu:123456789_12244&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 Polaparapu, Kiran A1 Lochmüller, Hanns A1 Preusse, Corinna A1 Hannappel, Luis A1 Schänzer, Anne A1 Grüneboom, Anika A1 Gangfuß, Andrea A1 Roos, Andreas PB Totowa, NJ : Humana Press YR 2023 K1 ddc:610 K1 ddc:570 K1 Fibroblast cytoskeleton K1 Fibroblast electron microscopy K1 Fibroblast filopodia K1 Fibroblast proteomics K1 NEDHFBA K1 PPP1R21 K1 Proteasome JF ISSN:0893-7648 LK http://dx.doi.org/https://oa.tib.eu/renate/handle/123456789/12244 DO https://oa.tib.eu/renate/handle/123456789/12244 SF ELIB - SuUB Bremen
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