CRISPR/Cas9 technology generated a 2-bp insertion immediately downstream of codon 69, leading to a frame shift and deletion of essential motifs of the GTPase domain. (J:255486)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count