Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V122M
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HBA1

NM_000558.5:p.V122M

Associated Papers

Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.

Wei W et al.

Bmc Medicine, 2025

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

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.

Yu L et al.

Annals of Hematology, 2025

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Ye Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.

Long J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.

Traisrisilp K et al.

Obstetric Medicine, 2024

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.

Zhao J et al.

Journal of Clinical Pathology, 2020

HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations.

Haynes CA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

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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."