Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G65S
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HBB

NM_000518.5:p.G65S

Associated Papers

Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.

Jiang H et al.

Hemoglobin, 2024

Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]: A Novel Variant of the α-Globin Gene.

Ju AP et al.

Hemoglobin, 2022

Detection of Hb Yulin [β13(A10)Ala→Val, HBB: c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

Su HX et al.

Hemoglobin, 2022

Hb Laibin [β96(FG3)Leu→Arg; HBB: c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family.

Huang YY et al.

Hemoglobin, 2022

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.

Luo S et al.

Journal of Human Genetics, 2022

Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene.

Qin YY et al.

Hemoglobin, 2021

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene.

Zhao YL et al.

Hemoglobin, 2021

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Hb Extremadura [β64(E8)Gly→Ser;β133(H11)Val→Leu]: a new molecular analysis.

Ropero P et al.

Hemoglobin, 2011

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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."