Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.V99M
Back to variants list

HBD

NM_000519.4:p.V99M

Associated Papers

δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.

Rets AV et al.

Hemoglobin, 2020

Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Lederer CW et al.

Hematology (amsterdam, Netherlands), 2017

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.

Alkindi S et al.

International Journal of Laboratory Hematology, 2015

First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman.

Al Zadjali S et al.

International Journal of Hematology, 2013

Analysis of δ-globin gene mutations in the Chinese population.

Liu N et al.

Hemoglobin, 2013

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Mutational spectrum of delta-globin gene in the Portuguese population.

Morgado A et al.

European Journal of Haematology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."