Associated Papers
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 2025
41252211 (PubMed )
Supplement: jci-136-198165-s088.pdf
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.
Melli B et al.
Experimental and Therapeutic Medicine, 2025
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
Sarkadi B et al.
Cancers, 2021
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