Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R367C
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UGT1A1

NM_000463.3:p.R367C

Associated Papers

Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene.

Wang M et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

Type II Crigler-Najjar syndrome: a case report and literature review.

He T et al.

Frontiers in Medicine, 2024

Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Zou TT et al.

Translational Pediatrics, 2021

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.

Rodrigues C et al.

Human Mutation, 2015

26377032 (PubMed )
Supplement: supplement_1.pdf

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G et al.

Blood Cells, Molecules & Diseases, 2013

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

Minucci A et al.

Clinical Biochemistry, 2013

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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."