Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.P115A
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HBA2

NM_000517.6:p.P115A

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 )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

Hb broomhill [α1 or α2 114(GH2) pro > ala;HBA1 or HBA2:c.343C > G]: a rare Hb variant found in a diabetic chinese individual.

Yuan Y et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2020

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