CRISPR/Cas9 technology generated a GGG to CGC change in exon 6 resulting in a glycine to arginine gain of function mutation at amino acid 203. (J:271137)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count