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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG8

Variant:p.L243F

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ABCG8

NM_022437.3:p.L243F

hg38:chr2:43852631 C>T

Associated Papers

Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).

Desai SR et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021

33707850 (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."