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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1D1

Variant:p.S220R

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AKR1D1

NM_005989.4:p.S220R

hg38:chr7:138106686 A>C

Associated Papers

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

Wang MJ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

33476544 (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."