CRISPR/Cas9 technology generated a serine to alanine substitution at residue 334 (p.S334A). This mutation mimics unphosphorylated USP20. (J:338880)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count