CRISPR/Cas9 technology targeted exon 5 before a highly conserved glutamate residue in the motif GGGAEFTT and generated a 10 bp deletion in exon 5 (ATAAGTGTTG), resulting in a frameshift and a premature stop codon at the beginning of exon 6. (J:313032)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count