Associated Papers
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
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Genomics, 2026
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
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Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
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