Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.Y269*
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RHD

NM_016124.6:p.Y269*

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

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

Single-exon fetal RHD genotyping: a 31-month follow up in the obstetric population of Western Sweden.

Pardi C 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

RHD Positive Haplotype in D Negative Omani Blood Donor.

Al Lawati M et al.

Oman Medical Journal, 2023

Novel RHD variant causing RhD negative phenotype identified in a pregnant woman.

Pardi C et al.

Transfusion, 2022

RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran.

Sadeghi-Bojd Y et al.

International Journal of Hematology-oncology and Stem Cell Research, 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

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

A multi-centre study on the performance of the molecular genotyping platform ID RHD XT for resolving serological weak RhD phenotype in routine clinical practice.

Londero D et al.

Vox Sanguinis, 2020

Amplicon Sequencing-Based Noninvasive Fetal Genotyping for RHD-Positive D Antigen-Negative Alleles.

Takahashi K et al.

Clinical Chemistry, 2019

Novel RHD alleles in African Brazilians.

de Paula Vendrame TA et al.

Transfusion, 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

Performance evaluation study of ID RHD XT, a new genotyping assay for the detection of high-prevalence RhD negative and weak D types.

Molano A et al.

Vox Sanguinis, 2018

Evaluation of the applicability and effectiveness of a molecular strategy for identifying weak D and DEL phenotype among D- blood donors of mixed origin exhibiting high frequency of RHD*Ψ.

Dezan MR 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

Molecular basis and zygosity determination of D variants including identification of four novel alleles in Chinese individuals.

He J et al.

Transfusion, 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 alleles in the Tunisian population.

Ouchari M et al.

Asian Journal of Transfusion Science, 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

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

RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes.

Cruz BR et al.

Transfusion Medicine (oxford, England), 2012

Overcoming methodical limits of standard RHD genotyping by next-generation sequencing.

Stabentheiner S et al.

Vox Sanguinis, 2011

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 2009

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

Touinssi M et al.

Transfusion, 2009

Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations.

Flegel WA et al.

Transfusion, 2009

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

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

RHD allele distribution in Africans of Mali.

Wagner FF et al.

Bmc Genetics, 2003

RHD positive haplotypes in D negative Europeans.

Wagner FF et al.

Bmc Genetics, 2001

The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype.

Singleton BK et al.

Blood, 2000

[The molecular basis of RH system and its applications in obstetrics and transfusion medicine].

Nardozza LM et al.

Revista Da Associacao Medica Brasileira (1992), 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."