Oligonucleotide targeting produced a nucleotide substitution (TAAC to CTTT) in exon 22 that results in an amino acid substitution of phenylalanine for asparagine at position 750 (N750F). (J:118264)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count