Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Xueyang Pan, Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael W. Crawford, Lauren C. Briere, Oguz Kanca, Shinya Yamamoto, David A. Sweetser, Jenny L. Wilson, Ruth J. Napier, Jonathan N. Pruneda, Hugo Jozef Bellen
The paper correlates allelic strengths of UBA5 variants in vivo and in vitro, classifying them into mild, intermediate, and severe based on functional assays.
medRxiv · Jul 17, 2023 · PreprintGenetic & Genomic Medicine