Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.G480S
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UBA1

NM_003334.4:p.G480S

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.

Pion A et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."