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  2. hccpjournal.biomedcentral.com hccpjournal.biomedcentral.com
    Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau disease: implications for treatment
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    1. ClingenBaseline 10 Nov 2026
      Genetic analysis showed that there were 13 families in the partial deletion group

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 35

      GroupNumberMales: 23

      GroupNumberFemales: 12

      GroupEthnicity: Chinese

      GroupAgeRange: N/A

      GroupInfo: 13 families (35 patients total, 33 of which are alive) in the partial deletion group had a CNS hemangioblastoma (see table 1)

      GroupPresentingHPOs: HP:0010797 (Hemangioblastoma

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 32432044 (Potential overlap, same authors)

      SupplementalData:  N/A

      Variant: Partial Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion

      CivicName: Null (Partial Deletion)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline CivicName:Null(Partial deletion) UnregisteredVariant Familial DiseaseEntity:hemangioblastoma Ethnicity:Chinese ClinVarID:N/A AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL InheritancePattern:DeNovoAssertion FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    hccpjournal.biomedcentral.com/articles/10.1186/s13053-020-00153-y