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Germline variants in pheochromocytomas, paragangliomas and pituitary adenomas: Expanding the genetic landscape to DNA repair and telomere maintenance genes

2026-07-01

Abstract excerpt

<title>Abstract</title> <p> Commonly up to 40% of pheochromocytomas and paragangliomas (PPGL) are estimated to present a hereditary origin, as well as up to 5% of pituitary adenomas (PA). This study aims to investigate the prevalence of pathogenic and likely pathogenic germline variants in two cohorts of patients diagnosed with PPGL and PA in genes associated with these diseases, as well as to evaluate if genes...

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Literature Corpus work
96dcef8d-8d66-5a88-afb6-fcedede123a2
DOI
10.21203/rs.3.rs-9815281/v1
Open publication

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Germline variants in pheochromocytomas, paragangliomas and pituitary adenomas: Expanding the genetic landscape to DNA repair and telomere maintenance genesDOI 10.21203/rs.3.rs-9815281/v1
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