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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP53

Variant:p.N405fs

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USP53

NM_001371395.1:p.N405fs

hg38:chr4:119268345 AAT>N

Associated Papers

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.

Nuzhnaya E et al.

Frontiers in Genetics, 2025

41356217 (PubMed )

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