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    Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
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    1. ClingenBaseline 23 Oct 2026
      SERPING1ID2704Ac.551-2A > Gnewdis AcExon 4 skipping (band B), use of cr: c.604 (band A)p.Gly184_Pro228delp.Ala185 Leufs*54 (NMD?)Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 5 skipping (band C)p.Gly184_Pro228delp.Gly184_Ser296del

      Patient: ID270

      Variant: c.551-2A > G

      CAID: CA380696603

      Functional effect: Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 5 skipping (band C). Observed in blood.

      CA380696603 CaseInfo Individual inferred_gene_hgnc:1228 inferred_gene_source:CAID UNC Biocuration Core
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    sciencedirect.com/science/article/pii/S1521661616305083