Associated Papers
Expanding the clinical and immunological phenotypes of COPB1 deficiency.
Alroqi F et al.
Frontiers in Immunology, 2026
Exploring Baralle-Macken Syndrome: A Novel COPB1 Mutation in Consanguineous Pakistani Siblings.
Khalid Z et al.
American Journal of Medical Genetics. Part A, 2025
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL et al.
Genome Medicine, 2021
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