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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HBA2

Variant:p.Y25_G26del2

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HBA2

NM_000517.6:p.Y25_G26del2

hg38:chr16:172984 GTATGGT>G

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

39858575 (PubMed )

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

33935034 (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."