Associated Papers
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Faundes V et al.
Journal of Human Genetics, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N et al.
Human Mutation, 2016
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