Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.L62F
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RHD

NM_016124.6:p.L62F

Associated Papers

Partial D variant with demonstrated risk of D alloimmunization in the Australian Indigenous population.

Palfreyman E et al.

Vox Sanguinis, 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

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

Characterization of Novel RHD Allele Variants and Their Implications for Routine Blood Group Diagnostics.

Matzhold EM et al.

Biomedicines, 2024

Transfusion management of Africans with RHD variants in China.

Yin Q et al.

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

RH genotyping by nonspecific quantitative next-generation sequencing.

Stef M et al.

Transfusion, 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

Molecular matching for patients with haematological diseases expressing altered RHD-RHCE genotypes.

Cruz BR et al.

Vox Sanguinis, 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

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia.

Chou ST et al.

Blood Advances, 2017

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

Prisco Arnoni C et al.

Transfusion Medicine (oxford, England), 2016

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

Ba A et al.

Transfusion, 2015

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

von Zabern I et al.

Transfusion, 2013

A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa.

Granier T et al.

Transfusion, 2013

The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL.

Reid ME et al.

Transfusion, 2013

RHD gene polymorphisms in alloimmunized RhD-negative individuals with high rate of racial admixture.

Martin FO et al.

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

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

Brajovich ME et al.

Transfusion, 2012

DIII Type 7 is likely the original serologically defined DIIIb.

Lomas-Francis C et al.

Transfusion, 2012

RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management.

Fasano RM et al.

Blood, 2010

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

Molecular analysis of inactive and active RHD alleles in native Congolese cohorts.

Touinssi M et al.

Transfusion, 2009

Heterogeneous molecular background of the weak C, VS+, hr B-, Hr B- phenotype in black persons.

Pham BN et al.

Transfusion, 2009

The RHCE allele ceCF: the molecular basis of Crawford (RH43).

Flegel WA et al.

Transfusion, 2006

RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V).

Grootkerk-Tax MG et al.

Transfusion, 2006

RHD allele distribution in Africans of Mali.

Wagner FF et al.

Bmc Genetics, 2003

Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety.

Noizat-Pirenne F et al.

Blood, 2002

The DAU allele cluster of the RHD gene.

Wagner FF et al.

Blood, 2002

Weak D alleles express distinct phenotypes.

Wagner FF et al.

Blood, 2000

Molecular genetics of RH.

Flegel WA et al.

Vox Sanguinis, 2000

The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis.

Daniels GL et al.

Transfusion, 1998

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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."