Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.T342I
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RHCE

NM_020485.8:p.T342I

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 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

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

de Paula Vendrame TA et al.

Vox Sanguinis, 2025

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

Antigen matching for transfusion support in Brazilian female patients with sickle cell disease to reduce RBC alloimmunization.

Muniz JG et al.

Transfusion, 2021

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

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

29955105 (PubMed )
Supplement: NIHMS969264-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

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

RHCE variants inherited with altered RHD alleles in Brazilian blood donors.

Prisco Arnoni C et al.

Transfusion Medicine (oxford, England), 2016

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

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

Silvy M et al.

Vox Sanguinis, 2015

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

Ba A et al.

Transfusion, 2015

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

Reid ME et al.

Blood Cells, Molecules & Diseases, 2014

D category IV: a group of clinically relevant and phylogenetically diverse partial D.

von Zabern I et al.

Transfusion, 2013

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

RHCE*ceTI encodes partial c and partial e and is often in cis to RHD*DIVa.

Westhoff CM et al.

Transfusion, 2013

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

Analysis of RhCE variants among 806 individuals in France: considerations for transfusion safety, with emphasis on patients with sickle cell disease.

Pham BN et al.

Transfusion, 2011

DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications.

Westhoff CM et al.

Transfusion, 2010

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