Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.R114W
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RHD

NM_016124.6:p.R114W

Associated Papers

Combining computational approaches and functional analysis for characterizing the deleterious effect of RHD gene variants on splicing in the Chinese population.

Jia S 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

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

RHD Genotypes in a Chinese Cohort of Pregnant Women.

Zhang J et al.

Frontiers in Genetics, 2021

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

Prevalence of RHD alleles in Japanese individuals with weak D phenotype: Identification of 20 new RHD alleles.

Isa K et al.

Vox Sanguinis, 2016

The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.

Srivastava K et al.

Transfusion, 2016

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

He J et al.

Transfusion, 2015

RHD*DOL1 and RHD*DOL2 encode a partial D antigen and are in cis with the rare RHCE*ceBI allele in people of African descent.

Roussel M et al.

Transfusion, 2013

Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.

Fichou Y et al.

Transfusion, 2012

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

Silvy M et al.

Transfusion, 2011

D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters.

Flegel WA et al.

Transfusion, 2009

Molecular basis of the Rh antigen RH48 (JAL).

Hustinx H et al.

Vox Sanguinis, 2009

Weak D alleles express distinct phenotypes.

Wagner FF et al.

Blood, 2000

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