CRISPR/cas9 genome editing used guide RNAs to target upstream [AAGTGTCCCCAAATATTGTC ; ATCCTTTCCTGACAATATTT] and downstream [GCACCTAGCACATTGCCATG ; CACCTAGCACATTGCCATGT] of exon 2. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count