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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBB

Variant:p.Q128_V134del0

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HBB

NM_000518.5:p.Q128_V134del0

hg38:chr11:5225639 CCACTTTCTGATAGGCAGCCTG>C

Associated Papers

Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.

Bao X et al.

Human Genomics, 2023

38062488 (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."