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Paper Details

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest
62
2015
ERK, KDM6A, KMT2D, KS, Kabuki syndrome, MEK, MLL2, RAP1, RAP1A, RAP1B, RASopathies, UPD, chromatin, congenital anomalies, developmental delay, genetic disorder, lysine, lysine (K)-specific methyltransferase 2D, patient, patient cell lines, uniparental isodisomy, zebrafish

Datasets

Release 1.2