Hypothesis

1 Matching Annotations

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

Worldwide distribution of common IDUA pathogenic variants

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Worldwide distribution of common IDUA pathogenic variants
  
  This paper is not publicly available. It was obtained via an institutional account and the relevant details annotated to the PubMed abstract.
  
  PMID: 29393969
  
  Gene: IDUA
  
  Disease: MPS1
  
  Inheritance: Autosomal recessive
  
  Gene:IDUA DiseaseEntity:MPS1 PMID:29393969 InheritancePattern:AutosomalRecessive inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
Visit annotations in context

Tags

DiseaseEntity:MPS1

PMID:29393969

Gene:IDUA

inferred_gene_source:Gene_Name

IDUA variant annotation

inferred_gene_hgnc:5391

InheritancePattern:AutosomalRecessive

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/29393969/