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1 Ergebnisse
1
De novo STXBP1 Mutations in Two Patients With Developmental..:
Ping Yang
;
Robert Broadbent
;
Chitra Prasad
...
https://www.frontiersin.org/articles/10.3389/fneur.2021.804078/full. , 2021
Link:
https://doi.org/10.3389/fneur.2021.804078
RT Journal T1 <Title>De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:da46ec063ea14ad8a0773b69a0d03ae2&Exemplar=1&LAN=DE A1 Ping Yang A1 Robert Broadbent A1 Chitra Prasad A1 Simon Levin A1 Sharan Goobie A1 Joan H. Knoll A1 Asuri N. Prasad PB Frontiers Media S.A. YR 2021 K1 STXBP1 K1 haploinsufficiency K1 dominant negative K1 nonsense mutation K1 RNA expression K1 Neurology. Diseases of the nervous system K1 RC346-429 JF https://www.frontiersin.org/articles/10.3389/fneur.2021.804078/full LK http://dx.doi.org/https://doi.org/10.3389/fneur.2021.804078 DO https://doi.org/10.3389/fneur.2021.804078 SF ELIB - SuUB Bremen
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