Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L92P
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HBB

NM_000518.5:p.L92P

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

Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine.

Chen X et al.

Annals of Hematology, 2019

Unstable Hemoglobin Variants: The Need for Clinical Vigilance in Infants with Congenital Jaundice.

Jiang H et al.

Hemoglobin, 2019

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Thalassemia syndromes in Serbia: an update.

Radmilovic M 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."