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Biallelic loss of function variants in PPP1R21 cause a neur..:
Rehman, AU
;
Najafi, M
;
Kambouris, M
...
https://openaccess.sgul.ac.uk/id/eprint/110482/6/Rehman_et_al-2018-Human_Mutation.pdf. , 2019
Link:
https://openaccess.sgul.ac.uk/id/eprint/110482/
RT Journal T1 <Title>Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftstgeorgesuniv:oai:openaccess.sgul.ac.uk:110482&Exemplar=1&LAN=DE A1 Rehman, AU A1 Najafi, M A1 Kambouris, M A1 Al-Gazali, L A1 Makrythanasis, P A1 Rad, A A1 Maroofian, R A1 Rajab, A A1 Stark, Z A1 Hunter, JV A1 Bakey, Z A1 Tokita, MJ A1 He, W A1 Vetrini, F A1 Petersen, A A1 Santoni, FA A1 Hamamy, H A1 Wu, K A1 Al-Jasmi, F A1 Helmstädter, M A1 Arnold, SJ A1 Xia, F A1 Richmond, C A1 Liu, P A1 Karimiani, EG A1 Karami Madani, G A1 Lunke, S A1 El-Shanti, H A1 Eng, CM A1 Antonarakis, SE A1 Hertecant, J A1 Walkiewicz, M A1 Yang, Y A1 Schmidts, M PB Wiley YR 2019 JF https://openaccess.sgul.ac.uk/id/eprint/110482/6/Rehman_et_al-2018-Human_Mutation.pdf LK http://dx.doi.org/https://openaccess.sgul.ac.uk/id/eprint/110482/ DO https://openaccess.sgul.ac.uk/id/eprint/110482/ SF ELIB - SuUB Bremen
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