CRISPR/cas9 genome editing uses guide RNAs (GTCATTTTGCTGTCGCGGTA; TCCTCGTCATTTTGCTGTCG) to introduce an R280C (CGC to TGC) knock-in mutation and a silent Y279Y (TAC to TAT) to exon 10. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count