Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L126_F129del4
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HBA2

NM_000517.6:p.L126_F129del4

Associated Papers

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Nguyen TT et al.

Scientific Reports, 2025

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Chetruengchai W et al.

Bmc Medical Genomics, 2024

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

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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."