Associated Papers
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization.
Kato H et al.
Oncogene, 2020
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Banka S et al.
Clinical Genetics, 2015
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