CRISPR-targeting of exon 9 produced a +1 frameshift mutation between codon 395 with a stop codon created a few nucleotides downstream. This mutation is similar to one identified in resistance to thyroid hormone (RTHalpha) patients. (J:268664)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count