Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.M418delFs
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UGT1A1

NM_000463.3:p.M418delFs

Associated Papers

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Bai J et al.

Molecular Medicine Reports, 2016

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

Li L et al.

Plos One, 2015

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.

Li Y et al.

Journal of Zhejiang University. Science. B, 2014

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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."