Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R31Splc
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HBD

NM_000519.4:p.R31Splc

Associated Papers

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Lou J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H et al.

Frontiers in Genetics, 2022

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels.

Satthakarn S et al.

Hemoglobin, 2020

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2019

Molecular Characterization of δ-Thalassemia in Iran.

Kordafshari A et al.

Hemoglobin, 2016

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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."