CRISPR/Cas9 technology generated two point mutations, a G to A change, resulting in a leucine to phenylalanine substitution at amino acid 387 and a G 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