Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.V2M
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HBB

NM_000518.5:p.V2M

Associated Papers

Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays.

Liang L et al.

Hemoglobin, 2026

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

The First Documented Case of Hb South Florida Variant in Portugal.

Braga Martins M et al.

Acta Medica Portuguesa, 2022

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

The Genome Landscape of Tibetan Sheep Reveals Adaptive Introgression from Argali and the History of Early Human Settlements on the Qinghai-Tibetan Plateau.

Hu XJ et al.

Molecular Biology and Evolution, 2019

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.

Vinciguerra M et al.

Hemoglobin, 2016

β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

Patel AP et al.

Hemoglobin, 2014

Non-thalassemic phenotype associated with the -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A).

Waye JS et al.

Hemoglobin, 2014

First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey.

Aslanger AD et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2013

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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."