CRISPE/Cas9 genome editing technology was used to alter the nucleotides corresponding to codon 81 from ACG to TGC. This alters the residue in the encoded protein from arginine to threonine (R81T). (J:285126)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count