CRISPR/Cas9 technology deleted 330 bp which includes exon 4 resulting in a frameshift mutation. Sequencing of the RT-PCR amplicon confirmed deletion of exon 4 and a splicing of exon 3 to exon 5. The frameshift mutation occurred from valine 14 to the last amino acid resulting in a new stop codon at the position of the 40th codon. (J:303285)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count