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A homozygous MED11 C-terminal variant causes a lethal neuro..:
Calì, Elisa
;
Lin, Sheng-Jia
;
Rocca, Clarissa
...
Genetics in Medicine. 24 (2022) 10 - p. 2194-2203 , 2022
Link:
https://doi.org/10.1016/j.gim.2022.07.013
RT Journal T1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.07.013&Exemplar=1&LAN=DE A1 Calì, Elisa A1 Lin, Sheng-Jia A1 Rocca, Clarissa A1 Sahin, Yavuz A1 Al Shamsi, Aisha A1 El Chehadeh, Salima A1 Chaabouni, Myriam A1 Mankad, Kshitij A1 Galanaki, Evangelia A1 Efthymiou, Stephanie A1 Sudhakar, Sniya A1 Athanasiou-Fragkouli, Alkyoni A1 Çelik, Tamer A1 Narlı, Nejat A1 Bianca, Sebastiano A1 Murphy, David A1 De Carvalho Moreira, Francisco Martins A1 Hannah, Michael G. A1 Bugiardini, Enrico A1 Kriouile, Yamna A1 El Khorassani, Mohamed A1 Aguennouz, Mhammed A1 Groppa, Stanislav A1 Karashova, Blagovesta Marinova A1 Di Rosa, Gabriella A1 Goraya, Jatinder S. A1 Sultan, Tipu A1 Avdjieva, Daniela A1 Kathom, Hadil A1 Tincheva, Radka PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 10 SP 2194 OP 2203 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.07.013 DO https://doi.org/10.1016/j.gim.2022.07.013 SF ELIB - SuUB Bremen
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