CRISPR/Cas9 technology generated two point mutations, a G to C change, resulting in a glutamine to histidine substitution at amino acid 664, and a C to T change, resulting in a PAM site disruption. (J:277399)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count