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Autor:
Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez‐Montanez, Javier Limeres, Fermina López‐Grondona, Ivon Cuscó, Eduardo F. Tizzano
Publikováno v:
American Journal of Medical Genetics Part A. 188:991-995
The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been rec