Varaico: Literature-Extracted Genetic Variants

Gene:HBG2
Variant:p.G65D
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HBG2

NM_000184.3:p.G65D

Associated Papers

Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham).

Gorfinkel L et al.

Pediatric Blood & Cancer, 2023

Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, p.Gly25Glu]: An Unstable Gγ-Globin Variant Associated with Neonatal Hemolytic Anemia.

Semkiu KM et al.

Hemoglobin, 2020

Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo.

Lozar-Krivec J et al.

Journal of Pediatric Hematology/oncology, 2016

The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δβ-Thalassemia Carrier.

Trova S et al.

Acta Haematologica, 2016

A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C].

Pirastru M et al.

European Journal of Haematology, 2014

IthaGenes: an interactive database for haemoglobin variations and epidemiology.

Kountouris P et al.

Plos One, 2014

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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."