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

      Macken, William L.; Godwin, Annie; Wheway, Gabrielle; Stals, Karen; Nazlamova, Liliya; Ellard, Sian; Alfares, Ahmed; Aloraini, Taghrid; AlSubaie, Lamia; Alfadhel, Majid; Alajaji, Sulaiman; Wai, Htoo A.; Self, Jay; Douglas, Andrew G. L.; Kao, Alexander P.; Guille, Matthew; Baralle, Diana (BioMed Central, 2021-02-25)
      BACKGROUND: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been ...