Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G.L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle*

*Corresponding author for this work

    Research output: Contribution to journal › Article › peer-review

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    Biochemistry, Genetics and Molecular Biology