Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.G385A
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RHD

NM_016124.6:p.G385A

Associated Papers

Frequency of RHD variants among blood donors in the central region of Iran, Yazd province.

Seddighi N et al.

Transfusion Medicine (oxford, England), 2025

A novel RHD allele combining partial D (c.455A>C) and weak D (c.1154G>C) variants.

Ramsey G et al.

Transfusion, 2025

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

Evaluation of the LightCycler® PRO Instrument as a Platform for Rhesus D Typing.

Polin H et al.

Biomedicines, 2024

Estimating the serological underrecognition of patients with weak or partial RHD variants.

Ramsey G et al.

Transfusion, 2024

Investigation of the intronic variant RHD:c.1154-31C>T designated as RHD*01EL.37.

Rui X et al.

Vox Sanguinis, 2023

Single-exon approach to non-invasive fetal RHD screening in early pregnancy: An update after 10 years' experience.

Uzunel M et al.

Vox Sanguinis, 2022

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

Rh Blood Group D Antigen Genotyping Using a Portable Nanopore-based Sequencing Device: Proof of Principle.

Tounsi WA et al.

Clinical Chemistry, 2022

RHD alleles contributing to serologically weak D phenotypes in China: A single-centre study over 10 years.

Ye L et al.

Vox Sanguinis, 2022

Molecular characterization of RhD variant phenotypes among blood donors: A study from the coastal region of India.

Polavarapu I et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Raud L et al.

Transfusion, 2021

RHD Genotypes in a Chinese Cohort of Pregnant Women.

Zhang J et al.

Frontiers in Genetics, 2021

Next-generation sequencing of 35 RHD variants in 16 253 serologically D- pregnant women in the Finnish population.

Tammi SM et al.

Blood Advances, 2020

RHD genotyping of serological weak D phenotypes in the Iranian blood donors and patients.

Oodi A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

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

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Raud L 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

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

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

Complete RHD next-generation sequencing: establishment of reference RHD alleles.

Tounsi WA et al.

Blood Advances, 2018

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

RHD genotype and zygosity analysis in the Chinese Southern Han D+, D- and D variant donors using the multiplex ligation-dependent probe amplification assay.

Ji YL et al.

Vox Sanguinis, 2017

First description of a D-CE-D hybrid gene on a weak D Type 2 molecular background.

Granier T et al.

Transfusion, 2017

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

Prisco Arnoni C et al.

Transfusion Medicine (oxford, England), 2016

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

New RHD variant alleles.

Garcia F et al.

Transfusion, 2015

How do we identify RHD variants using a practical molecular approach?

Arnoni CP et al.

Transfusion, 2014

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

Cruz BR et al.

Transfusion Medicine (oxford, England), 2012

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

Brajovich ME et al.

Transfusion, 2012

Anti-D investigations in individuals expressing weak D Type 1 or weak D Type 2: allo- or autoantibodies?

Pham BN 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

[Molecular approaches to the Rh blood group system].

Kajii E

Nihon Hoigaku Zasshi = the Japanese Journal of Legal Medicine, 2006

RhD variants in Caucasians: consequences for checking clinically relevant alleles.

Ansart-Pirenne H et al.

Transfusion, 2004

The evolution and formation of RH genes.

Okuda H et al.

Legal Medicine (tokyo, Japan), 2002

The DAU allele cluster of the RHD gene.

Wagner FF et al.

Blood, 2002

RHD sequencing: a new tool for decision making on transfusion therapy and provision of Rh prophylaxis.

Legler TJ et al.

Transfusion Medicine (oxford, England), 2001

PCR screening for common weak D types shows different distributions in three Central European populations.

Müller TH et al.

Transfusion, 2001

RHD gene mutations and the weak D phenotype: an Australian blood donor study.

Cowley NM et al.

Vox Sanguinis, 2000

Advance in the Rh blood group system.

Kajii E

Nihon Hoigaku Zasshi = the Japanese Journal of Legal Medicine, 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."