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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

1
1. Vibhor 26 Jul 2026
  
  in read_only_demo_group
  
  Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
  
  PMID:31836589
  
  Gene: ABCA4
  
  HGNC ID: 34
  
  HGNC:34 Gene:ABCA4 PMID:31836589 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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Tags

automated_hgnc_source:hgnc_tag

PMID:31836589

ClinGen ABCA4 Annotations

Gene:ABCA4

HGNC:34

automated_hgnc:34

Annotators

Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC6913139/