CRISPR/Cas technology generated a AC to CG nucleotide substitution and results in the amino acid substitution of aspartic acid to alanine at position 383 (D383A). (J:297076)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count