Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.P115H
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HBA1

NM_000558.5:p.P115H

Associated Papers

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBA1

Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant.

Xu M et al.

Hemoglobin, 2021

Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients.

Qin D et al.

The Journal of International Medical Research, 2020

Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain.

Xu AP et al.

Hemoglobin, 2018

Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the - -SEA (Southeast Asian) α-Thalassemia Deletion.

Chen WD et al.

Hemoglobin, 0

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