CRISPR/Cas9 technology generated a glycine to alanine and serine to alanine substitutions at amino acids 198 and 199 (GS198AA), generating a catalytically dead protein product. (J:314477)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count