Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.T400K
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ABCG8

NM_001357321.2:p.T400K

Associated Papers

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Wang Z et al.

American Journal of Hematology, 2014

Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.

Wang G et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2012

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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."