Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.H144Y
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HBD

NM_000519.4:p.H144Y

Associated Papers

Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.

Lacerra G et al.

Hemoglobin, 2010

Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site.

Bissé E et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2008

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.

Lacerra G et al.

Gene, 2008

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