The molecular lesion is a A-to-T missense mutation in codon 163 in exon 2. This is predicted to alter amino acid 55 from an isoleucine to a phenylalanine in the encoded protein. (J:237905)
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The molecular lesion is a A-to-T missense mutation in codon 163 in exon 2. This is predicted to alter amino acid 55 from an isoleucine to a phenylalanine in the encoded protein. (J:237905)