Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.Y269*
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RHD

NM_016124.6:p.Y269*

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

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

Novel RHD variant causing RhD negative phenotype identified in a pregnant woman.

Pardi C et al.

Transfusion, 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

Classification of major and minor blood group antigens in the Kuwaiti Arab population.

Ameen R et al.

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

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

Novel RHD alleles in African Brazilians.

de Paula Vendrame TA et al.

Transfusion, 2019

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

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

Stabentheiner S et al.

Vox Sanguinis, 2011

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 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

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

RHD allele distribution in Africans of Mali.

Wagner FF et al.

Bmc Genetics, 2003

RHD positive haplotypes in D negative Europeans.

Wagner FF et al.

Bmc Genetics, 2001

[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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