Hypothesis

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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  p.Thr737Asn
  
  CaseF6:II-1: Male, Italy
  
  CasePresentingHPOs: N/A
  
  CaseAddInfo: Proband for F6
  
  Individual CaseInfo CA390181677 inferred_gene_hgnc:163 inferred_gene_source:CAID UNC Biocuration Core
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UNC Biocuration Core

inferred_gene_source:CAID

Individual

CA390181677

CaseInfo

inferred_gene_hgnc:163

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4311232/