CRISPR/cas9 mediated recombination induced a G to A mutation at position 2915 (c.2915G>A) resulting in an arginine 972 glutamine missense mutation. (J:264758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count