Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S50R
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HBA2

NM_000517.6:p.S50R

Associated Papers

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-Full_dataset

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM et al.

Hemoglobin, 2020

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.

Nelson AC et al.

International Journal of Laboratory Hematology, 2019

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

Zhang H et al.

Journal of Clinical Laboratory Analysis, 2019

Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.

Keikhaei B et al.

Biochemical Genetics, 2018

Evidence for a gene conversion in a Hb Arya Carrier [α codon 47 Asp>Asn, Hb A1(or Hb A2):c.142 G>A].

Pécriaux A et al.

International Journal of Laboratory Hematology, 2017

Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description.

Tran Houangkeo TH et al.

Hemoglobin, 2016

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."