Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.S225F
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RHD

NM_016124.6:p.S225F

Associated Papers

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

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

Tounsi WA et al.

Clinical Chemistry, 2022

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

Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique.

de Paula Vendrame TA et al.

Vox Sanguinis, 2019

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

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

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

D category IV: a group of clinically relevant and phylogenetically diverse partial D.

von Zabern I et al.

Transfusion, 2013

RHD alleles in the Tunisian population.

Ouchari M et al.

Asian Journal of Transfusion Science, 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

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

Touinssi M 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

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

Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti-D alloimmunization and prevention.

Denomme GA et al.

Transfusion, 2005

RHD allele distribution in Africans of Mali.

Wagner FF et al.

Bmc Genetics, 2003

Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety.

Noizat-Pirenne F et al.

Blood, 2002

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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