CRISPR/cas9 genome editing used guide RNAs (TGGGTCGGGCCATCGATGCC and TCGCAGTCTGTCGATGCTCC) to target exon 10. Donor DNAs were created encoding a A727T mutation (GCC to ACA, alanine to threonine). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count