Variants found in CLU observed in more than one individual in the Portuguese series.
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Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequences (CLU: NM_001831.2). The initiation codon is codon 1. Genomic numbering refers to reference sequence NC_000008.9. Protein numbering refers to sequence NP_001822.2. Prediction of pathogenicity was performed in silico using the PolyPhen software [27], [28], [29].
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2015-12-02



