Hypothesis

2 Matching Annotations

Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Index1c.53G>Ap.(Arg18Gln)42c.5882G>A [25]
  
  variant in trans with c.5882G>A (p.Gly1961Glu)
  
  CA26845219 CaseInfo Individual inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Index1c.53G>Ap.(Arg18Gln)42c.5882G>A [25]
  
  variant in trans with c.5882G>A (p.Gly1961Glu)
  
  CA26845219 CaseInfo Individual inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
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Tags

inferred_gene_source:CAID

inferred_gene_hgnc:34

CA26845219

UNC Biocuration Core

CaseInfo

Individual

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6121640/