Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.P103S
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RHCE

NM_020485.8:p.P103S

Associated Papers

A novel RHCE*02 variant with a recombination of RHD exon 3 in a Chinese D+ voluntary blood donor with weak expression of e antigen.

Yang HM et al.

Transfusion, 2026

Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.

Wörner L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026

A serologic weak D caused by a novel RHD allele with single nucleotide c.209G>C variation predicted to encode p.Arg70Pro.

Heng E et al.

Transfusion, 2025

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Advancing blood group diagnosis with molecular methods: A focus on clinically challenging cases.

Zhu X et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 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

Identification of a novel RHCE*Ce (829G > A) allele associated with absence of C and e antigens expression.

Xuan C et al.

Transfusion Medicine (oxford, England), 2024

[Analysis of RhC Antigen Weak Expression Combined with Mimicking Autoanti-Ce and Homologous Anti-Jkb Causing Mismatch].

Yang HM et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 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

Accuracy of RHC/c genotyping in Chinese Han population.

Zhou S et al.

Transfusion Medicine (oxford, England), 2024

Identification of a novel DEL allele with c.411G>C on the RHD*01EL.01 allele background.

Shao LN et al.

Transfusion, 2024

Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France.

Pedini P et al.

Genes, 2022

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases.

Kim TY et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan.

Yang MH et al.

Vox Sanguinis, 2022

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

Sequence diversity of the Rh blood group system in Basques.

Flores-Bello A et al.

European Journal of Human Genetics : Ejhg, 2018

Evaluation of targeted exome sequencing for 28 protein-based blood group systems, including the homologous gene systems, for blood group genotyping.

Schoeman EM et al.

Transfusion, 2017

Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.

Stegmann TC et al.

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

Moulds JM et al.

Transfusion, 2015

RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2).

Ba A et al.

Transfusion, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain

Molecular characterization of a new D- - haplotype in a Comorian man.

Silvy M et al.

Vox Sanguinis, 2012

Molecular basis of the rare gene complex, DIVa(C)-, which encodes four low-prevalence antigens in the Rh blood group system.

Hipsky CH et al.

Vox Sanguinis, 2012

Partial expression of RHc on the RHD polypeptide.

Faas BH et al.

Transfusion, 2001

Expression of C antigen in transduced K562 cells.

Smythe JS et al.

Transfusion, 2001

Molecular analysis of blood group Rh transcripts from a rGr variant.

Mouro I et al.

British Journal of Haematology, 1996

Sequence analysis of cDNA derived from reticulocyte mRNAs coding for Rh polypeptides and demonstration of E/e and C/c polymorphisms.

Simsek S et al.

Vox Sanguinis, 1994

Frequencies of genetic variants of the Rh, Kell, Duffy, Kidd, MNS and Diego systems of northwest Rio Grande do Sul, Brazil.

Soares SDS et al.

Hematology, Transfusion and Cell Therapy, 0

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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."