Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.C105S
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HBA1

NM_000558.5:p.C105S

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-Full_dataset

Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.

Mehta N et al.

Hemoglobin, 2020

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Bento C et al.

Hemoglobin, 2012

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."