Hypothesis

2 Matching Annotations

Last 7 days
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  427C>T
  
  CA3281947
  
  variant Individual inferred_gene_hgnc:10664 inferred_gene_source:CAID UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  427C>T
  
  CA3281947
  
  variant Individual inferred_gene_hgnc:10664 inferred_gene_source:CAID UNC Biocuration Core
Visit annotations in context

Tags

variant

Individual

inferred_gene_source:CAID

UNC Biocuration Core

inferred_gene_hgnc:10664

Annotators

ClingenBaseline

URL

sciencedirect.com/science/article/pii/S0002929717300757