CRISPR/Cas9 genome editing technology was used to generate a deletion of two base pairs in exon 4 (c.1062-1063del, frameshift mutation), which is expected to cause premature termination of translation (p.Asn354Lysfs9*). (J:345144)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count