Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L82L
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HBB

NM_000518.5:p.L82L

Associated Papers

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Wu J et al.

Annals of Hematology, 2025

The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.

Zhao X et al.

Orphanet Journal of Rare Diseases, 2025

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Elevated Hb A2 is Not Always Indicative of β-Thalassemia.

Luo LP et al.

Hemoglobin, 2021

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT et al.

American Journal of Clinical Pathology, 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."