This CRISPR/Cas9-mediated 11 nucleotide (CGGCCCGGCCT) deletion within exon 2 is predicted to cause a premature stop codon and absence of protein expression was confirmed by flow cytometry (J:257229)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count