Zinc finger endonuclease-mediated mutation introduced nucleotide substitutions in exon 8 that result in the amino acid substitution of methionine for serine at position 305 (S305M) and a silent mutation. (J:268894)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count