Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.S248S
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RHD

NM_016124.6:p.S248S

Associated Papers

A splice site variant defining the novel RHD*01(487-3G) allele in trans to RHD*DAR1.2.

Cezar-Schmidt A et al.

Transfusion, 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

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

Transfusion support for a woman with RHD*09.01.02 and the novel RHD*01W.161 allele in trans.

Srivastava K et al.

Immunohematology, 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

Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles.

Vege S et al.

Transfusion, 2021

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

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

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.

Fichou Y et al.

Transfusion, 2018

Serologic and molecular characterization of weak D type 29.

Ouchari M et al.

Transfusion, 2017

A D+ blood donor with a novel RHD*D-CE(5-6)-D gene variant exhibits the low-frequency antigen RH23 (D(W) ) characteristic of the partial DVa phenotype.

Lopez GH et al.

Transfusion, 2016

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

Prisco Arnoni C et al.

Transfusion Medicine (oxford, England), 2016

Identification of four novel RHD alleles with altered expression of D in Brazilians.

Arnoni CP et al.

Transfusion, 2016

Genotyping of 28 blood group alleles in blood donors from Mali: Prediction of rare phenotypes.

Ba A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

Weak D Type 4.2.2 (DAR1.2) in an African child: Serology and molecular characterization.

Orlando N et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2015

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

Arnoni CP et al.

Transfusion, 2014

Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA.

Lejon Crottet S et al.

Transfusion, 2013

RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population.

Ouchari M et al.

Transfusion Medicine (oxford, England), 2013

Molecular background of D-negative phenotype in the Tunisian population.

Moussa H et al.

Transfusion Medicine (oxford, England), 2012

Partial D phenotypes and genotypes in the Chinese population.

Ye L et al.

Transfusion, 2012

Alloanti-c/ce in a c+ceAR/Ce patient suggests that the rare RHCE ceAR allele (ceAR) encodes a partial c antigen.

Peyrard T et al.

Transfusion, 2009

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 D variants in Chinese persons.

Yan L et al.

Transfusion, 2007

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 DAU allele cluster of the RHD gene.

Wagner FF et al.

Blood, 2002

DAL: a new partial RHD phenotype.

Noizat-Pirenne F et al.

Transfusion, 2001

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