CRISPR/Cas9 technology generated a GGA to AGA point mutation resulting in a glycine to arginine missense mutation at amino acid 209 (G209R) in exon 6. (J:324309)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count