CRISPR/cas9 gneome editing is used create T to A mutation at the T nucleotide positioned 6 nucleotides distal to the end of exon 2 (in intron 2). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count