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Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion

Identification of protective loss-of-function (LoF) mutations holds great promise for devising novel therapeutic interventions, although it faces challenges due to the scarcity of protective LoF alleles in the human genome. Exploiting the detailed mechanistic characterization of animal models of val...

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Bibliografiske detaljer
Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Diamantopoulou, Anastasia, Sun, Ziyi, Mukai, Jun, Xu, Bin, Fenelon, Karine, Karayiorgou, Maria, Gogos, Joseph A.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5544257/
https://ncbi.nlm.nih.gov/pubmed/28696314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1615719114
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