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    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
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    1. ClingenBaseline 11 Nov 2026

      A study investigated paraganglioma/pheochromocytoma tumors in a retrospective cohort and a prospective cohort. Some of these tumors were found with germline VHL mutations. Tumour ID 54 was PCC and a germline duplication mutation at base 444 of the VHL gene leading to a frameshift. Other phenotypic and demographic information was not available.

      EvidenceStatement ClinVarID:223211 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nature.com/articles/s41379-019-0343-4