CRISPR/Cas9 genome editing technology was used to generate a 1306+2bp deletion of the single exon coding region encompassing 23bp upstream of the translational start site codon to 49bp upstream of the translational stop codon. (J:337424)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count