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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41

Variant:p.F447fs

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EPB41

NM_001376013.1:p.F447fs

hg38:chr1:29033219 T>TN

Associated Papers

Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.

Sun X et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

40687448 (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."