Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D7N
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HBA2

NM_000517.6:p.D7N

Associated Papers

Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant.

Kelany M et al.

Hemoglobin, 2016

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.

Ghedira ES et al.

Haematologica, 2013

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