Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.N68S
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RHCE

NM_020485.8:p.N68S

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

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

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

Targeted exome sequencing designed for blood group, platelet, and neutrophil antigen investigations: Proof-of-principle study for a customized single-test system.

Roulis E et al.

Transfusion, 2020

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

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

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 › TypeI_

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

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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."