Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.R72H
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UBA5

NM_024818.6:p.R72H

Associated Papers

UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.

Ai L et al.

International Journal of Biological Macromolecules, 2026

Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

38900059 (PubMed )
Supplement: ADVS-11-2309817-s002.xlsx › Table_S5

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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