Functional characterization of SDHB variants clarifies hereditary pheochromocytoma and paraganglioma risk and genotype-phenotype relationships.

J Clin Invest · 2026 · PMC12904712 · PMID 41252211

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a nonsignificant trendno p-value reported

Prior work showed that severely damaging SDHB truncating alleles were associated with increased risk of PPGL, while missense variants exhibited a nonsignificant trend toward increased risk of hnPGL ( 44 ).

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