CRISPR-mediated replacement of 21 bp region of exon 4 results in 12 nucleotide substitutions producing 7 missense mutations in catalytically active region. (J:316804)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count