CRISPR/Cas9 technology generated an in-frame deletion of exons 3 and 4 that is predicted to encode a shortened N-terminal fragment lacking the CUB (the complement Clr/C1s, Uegf, Bmp1) and PTX (pentraxin) domains. (J:315981)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count