Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L107P
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HBA1

NM_000558.5:p.L107P

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

A Homozygous Mutation on the HBA1 Gene Coding for Hb Charlieu (HBA1: c.320T>C) Together with β-Thalassemia Trait Results in Severe Hemolytic Anemia.

Klei TRL et al.

Hemoglobin, 2019

Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.

Joly P et al.

Hemoglobin, 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."