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Paper Details

The Swedish COG6-CDG experience and a comprehensive literature review.
1
2023
ADHD, Attention Deficit/Hyperactivity Disorder, Brefeldin-A, CDG, COG6, Conserved Oligomeric Golgi complex subunit 6, Glu80Lys, Tyr262Cys, c, c.1793_1795dup, c.238G, c.785A, congenital disorders of glycosylation, delayed brain myelinization, enamel hypoplasia, fibroblasts, hyperkeratosis, intellectual disability, joint laxity, microcephaly, patient, patients
Author NameAffiliation
Zhi-Jie XiaSanford Burnham Prebys Medical Discovery Institute La Jolla California USA.
Bobby G NgSanford Burnham Prebys Medical Discovery Institute La Jolla California USA.
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute La Jolla California USA.
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Release 1.2