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G. Effraimidis

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Open access Aug 2026

P461 - LBA_ECE_1060 - Functional characterization of a non-canonical SDHD splice-site variant (c.314+4A > G) in a family with thyroid and carotid paragangliomas

Thyroid paragangliomas (TPGLs) are exceptionally rare (<0.1% of thyroid neoplasms, ~0.5% of all paragangliomas) and frequently occur within hereditary head and neck paraganglioma syndromes. While hereditary paragangliomas are frequently linked to SDHD germline variants, intronic splice-site alterations are scarce...

G. Effraimidis, V. Trachana, Evmorfia Tzagkaraki et al. · 0 citations

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