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Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases - 1 Sept 2024

Küçükali Batuhan, Bayraktar Elif Özlem, Yıldız Çisem, Gönen Sevim, Kutlar Merve, Karaçayır Nihal, Belder Nuran, Acun Büşra, Esmeray Şenol Pelin, Sunar Yayla Emine Nur, Gezgin Yıldırım Deniz, Bakkaloğlu Sevcan A

Abstract excerpt

OBJECTIVE: The exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant. METHODS: Data of pediatric patients...

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Adolescent
Child
Child, Preschool
Colchicine
Familial Mediterranean Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39093307
DOI: 10.1097/RHU.0000000000002119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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