CRISPR/Cas9 genome editing technology was used to create a deletion spanning from exon 1 to exon 8 (c.135_1301del1165 ). (J:236347)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count