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A functional platform for the selection of pathogenic varia..:
Segovia‐Falquina, Cristina
;
Vilas, Alicia
;
Leal, Fátima
...
Human Mutation. 43 (2022) 10 - p. 1430-1442 , 2022
Link:
https://doi.org/10.1002/humu.24431
RT Journal T1
A functional platform for the selection of pathogenic variants ofPMM2amenable to rescue via the use of pharmacological chaperones
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24431&Exemplar=1&LAN=DE A1 Segovia‐Falquina, Cristina A1 Vilas, Alicia A1 Leal, Fátima A1 del Caño‐Ochoa, Francisco A1 Kirk, Edwin P. A1 Ugarte, Magdalena A1 Ramón‐Maiques, Santiago A1 Gámez, Alejandra A1 Pérez, Belén PB Hindawi Limited YR 2022 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 43 IS 10 SP 1430 OP 1442 LK http://dx.doi.org/https://doi.org/10.1002/humu.24431 DO https://doi.org/10.1002/humu.24431 SF ELIB - SuUB Bremen
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