CRISPR-cas9 mediated recombination using guide RNAs targeting exon 1 created a 4bp deletion resulting in expression of a 40 amino acid truncated protein. (J:322071)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count