Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.D48_L49insG
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HBB

NM_000518.5:p.D48_L49insG

Associated Papers

SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

Wei X et al.

Prenatal Diagnosis, 2024

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.

Jiang F et al.

Frontiers in Genetics, 2023

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.

Zhao Y et al.

Hemoglobin, 2020

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Aliyeva G et al.

Hemoglobin, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx
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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."