CRISPR/Cas9 technology deleted 347 bp, staring in exon 3 and ending in exon 5, leading to a reading frame shift mutation followed by a premature translational-termination codon. (J:329152)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count