Two in-frame nonsense mutations (TAA and TGA) were introduced into exon 1 using an sgRNA and a template oligonucleotide with CRSIPR/Cas9 technology. This mutation creates a p.L14X (p.Leu14Stop) mutation resulting in a severely truncated open reading frame. (J:264824)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count