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Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Malvin Jefri, Xin Zhang, Patrick S. Stumpf, Li Zhang, Huashan Peng, Nuwan C. Hettige, +12 more
12citations -
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes, Alexander J.M. Dingemans, Shelagh K. Joss, Nicola C. Foulds, +91 more
29citations
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