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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP53

Variant:p.C190Splc

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USP53

NM_001371395.1:p.C190Splc

hg38:chr4:119259819 G>A

Associated Papers

Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.

Alam S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

39440620 (PubMed )

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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."