Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.E500D
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ABCG8

NM_022437.3:p.E500D

Associated Papers

Features of chinese patients with sitosterolemia.

Zhou Z et al.

Lipids in Health and Disease, 2022

[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities].

Cao LJ et al.

Zhonghua Yi Xue Za Zhi, 2019

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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."