A new episignature for Kabuki syndrome enhances the understanding of KMT2D variants, paving the way for improved precision medicine approaches. This discovery could significantly impact patient management and treatment strategies.
next generation episignature for kabuki syndrome enables fine mapping of the impact of kmt2d variants to inform precision medicine
Original title: “A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.”