The molecular lesion is a 1-bp insertion of cytosine in exon 7 at position 1452, resulting in a frameshift mutation leading to a premature stop codon and a truncated protein. (J:242526)
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The molecular lesion is a 1-bp insertion of cytosine in exon 7 at position 1452, resulting in a frameshift mutation leading to a premature stop codon and a truncated protein. (J:242526)