45b53154-1339-4f01-8244-f7e1284bbe54
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorderEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersIdentification of human D lactate dehydrogenase deficiencyABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9