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1 Ergebnisse
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Pathogenic RAB34 variants impair primary cilium assembly an..:
Bruel, Ange-Line
;
Ganga, Anil Kumar
;
Nosková, Lenka
...
Human Molecular Genetics. 32 (2023) 18 - p. 2822-2831 , 2023
Link:
https://doi.org/10.1093/hmg/ddad109
RT Journal T1
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddad109&Exemplar=1&LAN=DE A1 Bruel, Ange-Line A1 Ganga, Anil Kumar A1 Nosková, Lenka A1 Valenzuela, Irene A1 Martinovic, Jelena A1 Duffourd, Yannis A1 Zikánová, Marie A1 Majer, Filip A1 Kmoch, Stanislav A1 Mohler, Markéta A1 Sun, Jingbo A1 Sweeney, Lauren K A1 Martínez-Gil, Núria A1 Thauvin-Robinet, Christel A1 Breslow, David K PB Oxford University Press (OUP) YR 2023 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 32 IS 18 SP 2822 OP 2831 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddad109 DO https://doi.org/10.1093/hmg/ddad109 SF ELIB - SuUB Bremen
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