CRIPSR/Cas9 technology targeting exon 1 generated a deletion spanning the start codon and 50 amino acids within exon 1, including the CPELVPI motif. (J:325966)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count