Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.M204V
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UGT1A1

NM_000463.3:p.M204V

Associated Papers

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

He T et al.

Frontiers in Medicine, 2024

[Genetic analysis of a child affected with Crigler-Najjar syndrome type II].

Wu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

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

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Li L et al.

Plos One, 2015

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

Crigler-Najjar syndrome type 2.

Huang CS et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006

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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."