Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.N162_T163Splc
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RHD

NM_016124.6:p.N162_T163Splc

Associated Papers

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

40 years of researching the Del phenotype results in a change of transfusion practice.

Flegel WA et al.

Transfusion, 2024

DEL variants: review of molecular mechanisms, clinical consequences and molecular testing strategy.

Yin Q

Functional & Integrative Genomics, 2023

Genotype analysis to clarify RhD variants in discrepant samples of Chilean population.

Aburto A et al.

Frontiers in Immunology, 2023

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina.

Trucco Boggione C et al.

Transfusion, 2019

RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center.

Perez-Alvarez I et al.

Transfusion, 2019

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData

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

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S3

Anti-D reagents should be chosen accordingly to the prevalence of D variants in the obstetric population.

Lukacevic Krstic J et al.

Journal of Clinical Laboratory Analysis, 2018

Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population.

Kim B et al.

Annals of Laboratory Medicine, 2018

RHD-specific microRNA for regulation of the DEL blood group: integration of computational and experimental approaches.

Thongbut J et al.

British Journal of Biomedical Science, 2017

Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.

Butchbach ME

Biomolecular Detection and Quantification, 2016

Comprehensive analysis of RHD splicing transcripts reveals the molecular basis for the weak anti-D reactivity of Del -red blood cells.

Chen DP et al.

Transfusion Medicine (oxford, England), 2016

Molecular basis for D- Japanese: identification of novel DEL and D- alleles.

Ogasawara K et al.

Vox Sanguinis, 2015

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Fichou Y et al.

Transfusion, 2015

Anti-D alloimmunisation in pregnant women with DEL phenotype in China.

Wang M et al.

Transfusion Medicine (oxford, England), 2015

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Lv W et al.

Clinical Chemistry, 2015

Prospective Evaluation of a Transfusion Policy of RhD-Positive Red Blood Cells into DEL Patients in China.

Xu W et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2015

The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes.

Scott SA et al.

Transfusion, 2014

Molecular structures identified in serologically D- samples of an admixed population.

Trucco Boggione C et al.

Transfusion, 2014

Molecular basis of DEL phenotype in the Chinese population.

Gu J et al.

Bmc Medical Genetics, 2014

Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors.

Gowland P et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2014

Systematic RH genotyping and variant identification in French donors of African origin.

Kappler-Gratias S et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

Strategy for managing maternal variant RHD alleles in Rhesus D negative obstetric populations during fetal RHD genotyping.

Hyland CA et al.

Prenatal Diagnosis, 2014

Clinical and laboratory update on the DEL variant.

Nuchnoi P et al.

Laboratory Medicine, 2014

Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3+1G>A) allele.

Tsui NB et al.

Prenatal Diagnosis, 2013

RHD variants in Polish blood donors routinely typed as D-.

Orzińska A et al.

Transfusion, 2013

Variants of RhD--current testing and clinical consequences.

Daniels G

British Journal of Haematology, 2013

Blood group genotyping in multi-transfused patients.

Bakanay SM et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2013

Anti-D in pregnant women with the RHD(IVS3+1G>A)-associated DEL phenotype.

Gardener GJ et al.

Transfusion, 2012

Is current serologic RhD typing of blood donors sufficient for avoiding immunization of recipients?

Krog GR et al.

Transfusion, 2011

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

Stabentheiner S et al.

Vox Sanguinis, 2011

Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles.

Silvy M et al.

Transfusion, 2011

Antenatal Rh prophylaxis is unnecessary for "Asia type" DEL women.

Shao CP et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2010

[Genotyping of 21,000 blood donors in Quebec and RHD analysis].

St-Louis M et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2010

RHD positive among C/E+ and D- blood donors in Denmark.

Christiansen M et al.

Transfusion, 2010

[RHD variant in RhD/-/ mother with anti-D makes noninvasive fetal RHD genotyping impossible].

Orzińska A et al.

Ginekologia Polska, 2009

Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai.

Li Q et al.

Vox Sanguinis, 2009

Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria.

Polin H 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

Effective molecular RHD typing strategy for blood donations.

Polin H et al.

Transfusion, 2007

A new DEL variant caused by exon 8 deletion.

Richard M et al.

Transfusion, 2007

An easy RHD genotyping strategy for D- East Asian persons applied to Korean blood donors.

Luettringhaus TA et al.

Transfusion, 2006

A comprehensive analysis of DEL types: partial DEL individuals are prone to anti-D alloimmunization.

Körmöczi GF et al.

Transfusion, 2005

Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types.

Körmöczi GF et al.

Transfusion, 2005

Secondary anti-D immunization by Del red blood cells.

Yasuda H et al.

Transfusion, 2005

Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study.

Gassner C et al.

Transfusion, 2005

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