Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K12Q
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HBA1

NM_000558.5:p.K12Q

Associated Papers

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing.

Zhou X et al.

Human Mutation, 2026

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

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
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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."