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Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing

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1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  We identified 121 patients who carried pathogenic mutations in known RP or Usher syndrome genes (Supplementary Tables S4–S6).
  
  genotypes in table S2
  
  SupplementalTable CaseInfo Variant:161G>T CA226909 inferred_gene_hgnc:34 inferred_gene_source:CAID UNC Biocuration Core
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inferred_gene_hgnc:34

SupplementalTable

inferred_gene_source:CAID

UNC Biocuration Core

CA226909

CaseInfo

Variant:161G>T

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