CRISPR/Cas9 technology generated a 14 bp deletion (5'-AGCTCCGGCGCTGC-3') in the first exon. Western blot analysis confirmed the absence of protein. (J:297024)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count