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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

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1. Vibhor 09 Jul 2026
  
  in exploring_annotations
  
  EXTL3, HGNC:3518
  
  Neuro-immuno-skeletal Dysplasia Syndrome
  
  OMIM: 617425
  
  ClinGen General UNC Biocuration Core hgnc_imputed:HGNC_body
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hgnc_imputed:HGNC_body

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sciencedirect.com/science/article/pii/S0002929717300137