Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R32Splc
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HBA1

NM_000558.5:p.R32Splc

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Hua R et al.

Human Genomics, 2025

Catalog of 73 novel variants in thalassemia: discoveries and insights.

Huang J et al.

Human Molecular Genetics, 2025

Prevalence of thalassemia-carrier couples and fertility risk assessment.

Wu LS et al.

International Journal of Hematology, 2024

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.

Ozalp O et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

[Application of Next Generation Sequencing to Screen the Neonatal Thalassemia Genes].

Tan M et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015

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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."