CRISPR/Cas9 technology generated a 10 bp deletion (ACCAGCCATA) that results in a stop codon and termination at alanine 530 (p.A530*). (J:310176)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count