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    Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract by Shaohua Zhang, Yang Sun, Yinghong Ji, Li Ning, Binghe Xiao, Maierdanjiang Ainiwaer, Houyi Liu, Yingying Hong

    Published 2025-01-01
    “…The global structural comparison with multidimensional scaling demonstrated variants with similar protein structures (AF2) tended to exhibit similar clinical and biological phenotypes. The Cog4 p.Y714F variant exhibited greater protein structural similarity to mutated Cog4 found in Saul‒Wilson syndrome (p.G512R) and shared similar clinical phenotype (congenital cataract and psychomotor retardation). …”
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