Varaico: Literature-Extracted Genetic Variants

Gene:USP48
Variant:p.G406R
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USP48

NM_032236.8:p.G406R

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

The genetic landscape of pediatric postural orthostatic tachycardia syndrome.

Qu H et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2025

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Bassani S et al.

Human Molecular Genetics, 2021

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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."