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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBB

Variant:p.N103I

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HBB

NM_000518.5:p.N103I

hg38:chr11:5226584 T>A

Associated Papers

Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)].

Patterson M et al.

Hemoglobin, 2003

12908806 (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."