KMT2D variants in Kabuki Syndrome type 1 fibroblasts
Targeted sequencing of KMT2D variants in fibroblast samples from 7 Kabuki Syndrome type 1 (KS1) patients. Variants were identified in the KMT2D gene (chr12) and include frameshift, nonsense, and missense mutations.
Targeted sequencing of KMT2D variants in fibroblast samples from 7 Kabuki Syndrome type 1 (KS1) patients. Variants were identified in the KMT2D gene (chr12) and include frameshift, nonsense, and missense mutations.
European Bioinformatics Institute