Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L110R
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HBA1

NM_000558.5:p.L110R

Associated Papers

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.

Sroymora S et al.

Hemoglobin, 2012

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

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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."