CRISPR/Cas9 technology generated a point mutation within exon 14 resulting in an amino acid substitution in position 476 of a serine with a phenylalanine. (J:277431)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count