Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L92P
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HBA2

NM_000517.6:p.L92P

Associated Papers

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Qin D et al.

Annals of Medicine, 2025

Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.

Tang B et al.

Hemoglobin, 2025

Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin.

Ge Y et al.

Molecular Genetics & Genomic Medicine, 2024

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Chen YP et al.

Journal of Blood Medicine, 2024

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Feng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Compounded with hemoglobin Port Phillip and -α4.2 or --SEA deletions were identified in Chinese population.

Du L et al.

Molecular Genetics & Genomic Medicine, 2021

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant.

Kelany M et al.

Hemoglobin, 2016

A Novel Heme Pocket Hemoglobin Variant Associated with Normal Hematology: Hb Zara or α91(FG3)Leu→Ile (α2) (HBA2: c.274C > A).

Trova S et al.

Hemoglobin, 2015

Hb Treviso [α91(FG3)Leu→Phe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity.

Barberio G et al.

Hemoglobin, 2013

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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."