Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.L245V
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RHCE

NM_020485.8:p.L245V

Associated Papers

Uncommon RHD variants and an unconventional RHCE hybrid allele with D epitope expression in blood donors from northwestern Croatia.

Lilić M et al.

Transfusion, 2025

Assessing reagents and techniques for identifying RhCE variants in routine serological testing.

de Paula Vendrame TA et al.

Vox Sanguinis, 2025

RHCE genotyping using next generation sequencing: Allele specific reference sequences.

Tounsi WA et al.

Transfusion, 2025

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.

Mazières S et al.

Scientific Reports, 2025

39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S7

Ethnic diversity in Chilean blood groups: A comprehensive analysis of genotypes, phenotypes, alleles and the immunogenic potential of antigens in northern, southern and central regions.

Núñez Ahumada MA et al.

Vox Sanguinis, 2024

First investigation of RH gene polymorphism in patients with sickle cell disease and associated blood donors in Cameroon, Central Africa.

Mbeti JMM et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Chang TC et al.

Blood Advances, 2024

38522094 (PubMed )
Supplement: BLOODA_ADV-2023-011660-mmc1.xlsx › Rh

DNA Reference Reagents for Genotyping RH Variants.

Sippert E et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Transfusing children with sickle cell disease using blood group genotyping when the pool of Black donors is limited.

Leiva-Torres GA et al.

Transfusion, 2024

From the investigation of RHD-CE hybrid genes to the recognition of RHCE variants and RHD zygosity. Expanding the analysis by QMPSF in Brazilian donors and in patients with sickle cell disease.

de Paula Vendrame TA et al.

Blood Transfusion = Trasfusione Del Sangue, 2023

Genotype analysis to clarify RhD variants in discrepant samples of Chilean population.

Aburto A et al.

Frontiers in Immunology, 2023

Frequency and characterization of RHD and RHCE variants in the Noir Marron population from French Guiana.

Laget L et al.

Transfusion, 2022

A novel complex RHD(L62F,A137V,N152T)-CE(6-7(G336C))-D allele in a patient of African ancestry.

Bénech C et al.

Transfusion, 2022

The Crawford variant as a cause of RhD typing discrepancies in blood banks: A case report.

Barrera S et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2022

Molecular blood group screening in Omani blood donors.

Al-Riyami AZ et al.

Vox Sanguinis, 2022

Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors.

Dezan MR et al.

Transfusion, 2021

RH genotyping by nonspecific quantitative next-generation sequencing.

Stef M et al.

Transfusion, 2020

Molecular Blood Group Screening in Donors from Arabian Countries and Iran Using High-Throughput MALDI-TOF Mass Spectrometry and PCR-SSP.

Flesch BK et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data.

Chang TC et al.

Blood Advances, 2020

Classification of major and minor blood group antigens in the Kuwaiti Arab population.

Ameen R et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

A Tutsi family harbouring two new RHCE variant alleles and a new haplotype in the Rh blood group system.

Deleers M et al.

Vox Sanguinis, 2020

Next-Generation Sequencing Technologies in Blood Group Typing.

Fürst D et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

New RHCE*ce variant allele in African descent holds 105C>T (silent) in cis to 48C in Exon 1 and 733G in Exon 5.

Sippert E et al.

Transfusion, 2019

Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

Volkova E et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.

Wheeler MM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Alloimmunization risk associated with amino acid 223 substitution in the RhD protein: analysis in the light of molecular modeling.

de Brevern AG et al.

Transfusion, 2018

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients.

Dezan MR et al.

Blood Cells, Molecules & Diseases, 2017

Genotyping of 28 blood group alleles in blood donors from Mali: Prediction of rare phenotypes.

Ba A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

Identification of six new RHCE variant alleles in individuals of diverse racial origin.

Goldman M et al.

Transfusion, 2016

RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity.

Westhoff CM et al.

Transfusion, 2015

A simple genotyping procedure without DNA extraction to identify rare blood donors.

Silvy M et al.

Vox Sanguinis, 2015

A comparison of methods for the detection of the r'(s) haplotype.

Moulds JM et al.

Transfusion, 2015

The Duffy blood group system in the Tunisian population.

Ouchari M et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2015

Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.

Belsito A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2015

RHD genotyping and its implication in transfusion practice.

Sassi A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2014

RHD positive among C/E+ and D-negative blood donors in Tunisia.

Moussa H et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2014

Molecular structures identified in serologically D- samples of an admixed population.

Trucco Boggione C et al.

Transfusion, 2014

(C)ce(s) haplotype screening in Tunisian blood donors.

Moussa H et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease.

Reid ME et al.

Blood Cells, Molecules & Diseases, 2014

Systematic RH genotyping and variant identification in French donors of African origin.

Kappler-Gratias S et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population.

Ouchari M et al.

Transfusion Medicine (oxford, England), 2013

RHD alleles in the Tunisian population.

Ouchari M et al.

Asian Journal of Transfusion Science, 2013

RHD*DOL1 and RHD*DOL2 encode a partial D antigen and are in cis with the rare RHCE*ceBI allele in people of African descent.

Roussel M et al.

Transfusion, 2013

Investigation of pseudogenes RHDΨ and RHD-CE-D hybrid gene in D-negative blood donors by the real time PCR method.

Szulman A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2012

On the trail of anti-CDE to unexpected highlights of the RHD*weak 4.3 allele in the Upper Austrian population.

Polin H et al.

Vox Sanguinis, 2012

Molecular background of D-negative phenotype in the Tunisian population.

Moussa H et al.

Transfusion Medicine (oxford, England), 2012

Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes.

Brajovich ME et al.

Transfusion, 2012

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