CRISPR/Cas9 technology generated a frameshifting deletion between exons 2-3. This frameshift in the region encoding the first RNA Recognition Motif (RRM) led to a premature termination codon that disrupted all three consensus RRMs. (J:330079)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count