CRISPR/Cas9 genome editing was used to insert TCC AGT to TCA GCT mutations in codons 477 and 478, resulting in the insertion of a serine to alanine point mutation in codon 478 (S478A). (J:288606)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count