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    Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes | Genetic Testing and Molecular Biomarkers
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    1. ClingenBaseline 23 Oct 2026
      Bidirectional sequencing on 3500 Genetic Analyzer (Applied Biosystems) was done, and mutations in both the genes were analyzed by blasting them against the reference genomic sequences of PCCA (NM_000282.3) and PCCB (NM_000532.4).

      Method 1: Sanger

      GenotypingMethod: Coding regions as well as exon–intron boundaries PCCA and PCCB amplified by PCR then analyzed with bidirectional sequencing. Variants were blasted against references genomes PCCA (NM_000282.3) and PCCB (NM_000532.4).

      GenotypingMethod inferred_gene_hgnc:8653 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0017