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  2. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
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    1. ClingenBaseline 22 Oct 2026
      VHL_2Frozenc.250G>Tp.Val84LeuM25AdrenalPCCB

      PatientID: VHL_2 (tumor ID)

      KindredID: 2

      Case: M, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at 25Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L (c.250G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2236, https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L (c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:25 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:2236 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml