Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.N10S
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HBA2

NM_000517.6:p.N10S

Associated Papers

Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α+-thalassemia in a Thai family.

Panyasai S et al.

Annals of Medicine, 2023

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-HBA2

Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.

Serjeant GR

Expert Review of Hematology, 2022

Haemoglobin Variant Screening in Jamaica: Meeting Student's Request.

Mason K et al.

British Journal of Haematology, 2016

The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein.

Drachkova I et al.

Human Mutation, 2014

Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): a 27-year experience.

Saint-Martin C et al.

Journal of Medical Screening, 2013

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Moradkhani K et al.

Annals of Hematology, 2009

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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."