CRISPR-targeting deleted 15 bp (p.del(R768-D772)) removing the zinc fingers required for SMAD protein interaction, which corresponds to the deletion p.del(R760-D764) observed in human patients with midline brain defects. (J:296537)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count