CRISPR-targeting of exon 6 deleted 58 bp, containing the critical catalytic residues of the Nudix motif. Western blot analysis confirmed the absence of protein expression in the liver and kidney. (J:282288)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count