Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R32Splc
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HBA1

NM_000558.5:p.R32Splc

Associated Papers

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.

Fjeld B et al.

International Journal of Laboratory Hematology, 2023

An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.

Asghari Ahmadabad M et al.

Frontiers in Pediatrics, 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-HBA1

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

Alpha-thalassemia mutations in Gilan Province, North Iran.

Hadavi V et al.

Hemoglobin, 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."