CRISPR/Cas9 technology a truncated protein in which residues 46-51 in the C-terminus are deleted. Truncated protein expression is stable but RNA levels are reduced. Incorporation into chromatin occurs but at lower efficiency. (J:338968)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count