An 11 bp deletion (TGCCTTCCAAC) was created in exon 1 using an sgRNA with CRISPR/Cas9 technology, leading to a frameshift and premature stop codon (p.A29Gfs*7). (J:338979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count