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Implication of non-coding PAX6 mutations in aniridia

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1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Implication of non-coding PAX6 mutations in aniridia
  
  PMID 30291432
  
  MONDO MONDO:0800183
  
  Notes minigene splicing assay for c.-128-2del that shows majority of transcript is one where exon 3 is skipped with some but greatly reduced canonical transcript levels
  
  ClinGen VariantCuration Splicing Gene:PAX6 NM_001368894.2:c.-128-2del MiniGene ExonSkipping Probands inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

Gene:PAX6

UNC Biocuration Core

Probands

ClinGen

NM_001368894.2:c.-128-2del

ExonSkipping

Splicing

MiniGene

inferred_gene_source:Gene_Name

inferred_gene_hgnc:8620

VariantCuration

Annotators

ClingenBaseline

URL

link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00439-018-1940-x