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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

BACKGROUND: Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluat...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Genet Genomic Med
Κύριοι συγγραφείς: Errichiello, Edoardo, Giorda, Roberto, Gambale, Antonella, Iolascon, Achille, Zuffardi, Orsetta, Giglio, Sabrina
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: John Wiley and Sons Inc. 2020
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963413/
https://ncbi.nlm.nih.gov/pubmed/33340270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1561
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