Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R32Splc
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HBA1

NM_000558.5:p.R32Splc

Associated Papers

HbA2:c.96-2A > G mutation: report of 7 cases in China.

Yu XH et al.

Hematology (amsterdam, Netherlands), 2024

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

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

de la Fuente-Gonzalo F et al.

Annals of Hematology, 2019

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx

Molecular diagnosis of α-thalassemia in a multiethnic population.

Gilad O et al.

European Journal of Haematology, 2017

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

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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."