CRISPR/Cas9 editing was used to introduce three nucleotide changes, including two nucleotide changes in codon 379 (GGT > CGC) resulting in substitution of arginine for glycine at position 379 (G379R), and a silent change in codon 377 to disrupt an adjacent PAM site (ACC > ACA). (J:296318)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count