Paper Details

Paper Title

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

Paper Journal Title

J Inherit Metab Dis

Paper Citation Count

Paper Publication Year

2023

Bio Mention

CDG, COG, COG complex, COG3, COG4, congenital disorder of glycosylation, congenital disorders of glycosylation, conserved oligomeric Golgi complex, epilepsy, facial dysmorphism, fibroblasts, global developmental delay, humans, intellectual disability, microcephaly, patient, patient cells, serum, sialic acid, transferrin

Mesh Descriptor

Author Name	Affiliation
Zhi-Jie Xia	Sanford Burnham Prebys Medical Discovery Institute
Bobby G Ng	Sanford Burnham Prebys Medical Discovery Institute
Marjorie Withers	Baylor College of Medicine
Shalini N Jhangiani	Baylor College of Medicine
Zeynep Coban Akdemir	Baylor College of Medicine
Zeynep Coban Akdemir	School of Public Health, The University of Texas Health Science Center at Houston
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
Henry Houlden	Queen Square Institute of Neurology, University College London
Maha S Zaki	Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Hudson H Freeze	Sanford Burnham Prebys Medical Discovery Institute
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine

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