CRISPR-targeting engineered the amino acid substitution of tyrosine for asparagine at position 359 (N359Y). This mutation is similar to one identified in a patient with an atypical presentation of resistance to thyroid hormone (RTHalpha). (J:268664)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count