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1 Ergebnisse
1
Nonsynonymous Mutations in Intellectual Disability and Auti..:
Connie T. Y. Xie
;
Stephen F. Pastore
;
John B. Vincent
..
https://www.mdpi.com/2073-4409/13/2/199. , 2024
Link:
https://doi.org/10.3390/cells13020199
RT Journal T1
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N -Glycosylation and Reduce Protein Stability
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:dc1796fa404748b788b648b9d47c9e66&Exemplar=1&LAN=DE A1 Connie T. Y. Xie A1 Stephen F. Pastore A1 John B. Vincent A1 Paul W. Frankland A1 Paul A. Hamel PB MDPI AG YR 2024 K1 PTCHD1 K1 autism spectrum disorder K1 mutations K1 post-translational processing K1 protein stability K1 neurons K1 Cytology K1 QH573-671 JF https://www.mdpi.com/2073-4409/13/2/199 LK http://dx.doi.org/https://doi.org/10.3390/cells13020199 DO https://doi.org/10.3390/cells13020199 SF ELIB - SuUB Bremen
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