Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105delFs
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HBB

NM_000518.5:p.R105delFs

Associated Papers

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

39737841 (PubMed )
Supplement: ADVS-12-2410992-s004.xlsx › Sheet1

Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations.

Qiu Y et al.

Hemoglobin, 2023

Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.

Lin W et al.

International Journal of Laboratory Hematology, 2021

Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.

Qiu Y et al.

Hemoglobin, 2020

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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."