医学
杂合子丢失
计算生物学
梅德林
遗传学
生物信息学
基因
等位基因
政治学
生物
法学
作者
Batuhan Küçükali,Elif Özlem Bayraktar,Çişem Yıldız,Sevim Gönen,Merve Kutlar,Nihal Karaçayır,Nuran Belder,Büşra Acun,Pelin Esmeray Şenol,Emine Nur Sunar Yayla,Deniz Gezgin Yıldırım,Sevcan A. Bakkaloğlu
标识
DOI:10.1097/rhu.0000000000002119
摘要
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.
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