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Article

Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.

Clinical rheumatology - 1 Dec 2020

Demir Ferhat, Doğan Özlem Akgün, Demirkol Yasemin Kendir, Tekkuş Kübra Ermiş, Canbek Sezin, Karadağ Şerife Gül, Sönmez Hafize Emine, Ayaz Nuray Aktay, Doğanay Hamdi Levent, Sözeri Betül

Abstract excerpt

OBJECTIVE: Systemic autoinflammatory diseases (SAIDs) may not always present with typical clinical findings of a monogenic disease. We aimed to genetically screen and diagnose these clinically unclassified patients by next-generation sequencing (NGS) analysis. METHOD: A total of 64 patients who had clinical findings of a periodic fever syndrome but did not meet the clinical diagnostic criteria for any SAID or had...

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PMID: 32458238
DOI: 10.1007/s10067-020-05108-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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