CRISPR/Cas9 genome editing is used to introduce a 4 bp deletion (position 154939648-651 of NC_000069.6) in exon 16. The mutation results in a frameshift after Ser532 and in termination downstream after 29 ectopic domains. (J:280429)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count