CRISPR/Cas9 technology generated a AT to TC nucleotide substitution that mimics a human mutation and results in the amino acid substitution of asparagine to isoleucine at position 64 (N64I). (J:298124)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count