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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

[A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG]

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1. spandi 01 Nov 2025
  
  in Public
  
  Abstract
  
  Case#: A 58y/o Japanese man
  
  DiseaseAssertation: Aceruloplasminemia
  
  FamilyInfo:
  
  CaseNotHPOs:
  
  CaseNotHPOFreeText:
  
  CasePreviousTesting:
  
  Genotyping Method:
  
  FunctionalAnalysis:
  
  Variant:
  
  ClinVar: 42153
  
  CAID: CA344614
  
  gnomAD: NR
  
  AdditionalInfo:
  
  CaseInfo Gene:CP General FamilyInfo DiseaseEntity:Aceruloplasminemia OpenAccess HGNC:2295
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General

FamilyInfo

CaseInfo

OpenAccess

DiseaseEntity:Aceruloplasminemia

Gene:CP

HGNC:2295

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spandi

URL

pubmed.ncbi.nlm.nih.gov/15609677/