Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K12K
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HBA2

NM_000517.6:p.K12K

Associated Papers

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.

Lin XF et al.

Molecular Medicine Reports, 2018

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.

McCarthy EM et al.

Human Molecular Genetics, 1998

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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."