Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A22P
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HBA1

NM_000558.5:p.A22P

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

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

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B et al.

Biochemical Genetics, 2018

Scanning for α-Hemoglobin Variants by High-Resolution Melting Analysis.

Yimniam W et al.

Journal of Clinical Laboratory Analysis, 2016

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 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."