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

William L MackenAnnie GodwinGabrielle WhewayKaren StalsLiliya NazlamovaSian EllardAhmed AlfaresTaghrid AlorainiLamia AlSubaieMajid AlfadhelSulaiman AlajajiHtoo A WaiJay SelfAndrew G L DouglasAlexander P KaoMatthew GuilleDiana Baralle
Published in: Genome medicine (2021)
This adds to the growing body of evidence that COPI subunits are essential in brain development and human health and underlines the utility of exome and genome sequencing coupled with Xenopus tropicalis CRISPR/Cas modelling for the identification and characterisation of novel rare disease genes.
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