Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.M1K
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HBA2

NM_000517.6:p.M1K

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

[A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene].

Chen Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Van Zwieten R et al.

American Journal of Hematology, 2013

A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.

Von Kanel T et al.

American Journal of Hematology, 2013

An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.

Sligh JE et al.

The Journal of Biological Chemistry, 1992

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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."