CRISPR/cas9 genome editing is used to create an amino acid substitution at position 76 (aspartic acid to glycine, GAT to GGC, D76G) as well as an unintended silent mutation, S74S (TCT to TCC). (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count