CRISPR-targeting introduced a coding region modification (del5237). Exons 2 and 3 were deleted using CRISPR/Cas9 genome editing technology. The 5237 bp deletion region contains the start codon, which resulted in disruption of protein expression and function. (J:293217, J:338184)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count