Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.L110P
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RHD

NM_016124.6:p.L110P

Associated Papers

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

Polin H et al.

Biomedicines, 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

Insights into anti-D formation in carriers of RhD variants through studies of 3D intraprotein interactions.

Floch A et al.

Transfusion, 2021

Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.

Thongbut J et al.

Transfusion, 2021

The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals.

Ying Y et al.

Frontiers in Immunology, 2021

Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors.

Thongbut J et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Evaluation of targeted exome sequencing for 28 protein-based blood group systems, including the homologous gene systems, for blood group genotyping.

Schoeman EM et al.

Transfusion, 2017

Molecular structures identified in serologically D- samples of an admixed population.

Trucco Boggione C et al.

Transfusion, 2014

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

von Zabern I et al.

Transfusion, 2013

Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.

Fichou Y et al.

Transfusion, 2013

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

Brajovich ME et al.

Transfusion, 2012

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

Stabentheiner S et al.

Vox Sanguinis, 2011

The RHCE allele ceCF: the molecular basis of Crawford (RH43).

Flegel WA et al.

Transfusion, 2006

Random survey for RHD alleles among D+ European persons.

Chen Q et al.

Transfusion, 2005

Molecular and serologic characterization of DWI, a novel "high-grade" partial D.

Körmöczi GF et al.

Transfusion, 2004

DNB: a partial D with anti-D frequent in Central Europe.

Wagner FF et al.

Blood, 2002

The DAU allele cluster of the RHD gene.

Wagner FF et al.

Blood, 2002

Partial expression of RHc on the RHD polypeptide.

Faas BH et al.

Transfusion, 2001

Three molecular structures cause rhesus D category VI phenotypes with distinct immunohematologic features.

Wagner FF et al.

Blood, 1998

Human D(IIIa) erythrocytes: RhD protein is associated with multiple dispersed amino acid variations.

Huang CH et al.

American Journal of Hematology, 1997

Molecular basis of the D variant phenotypes DNU and DII allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein.

Avent ND et al.

British Journal of Haematology, 1997

The genetic basis of a new partial D antigen: DDBT.

Beckers EA et al.

British Journal of Haematology, 1996

Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotype.

Rouillac C et al.

American Journal of Hematology, 1995

Genotyping of RHD by multiplex polymerase chain reaction analysis of six RHD-specific exons.

Maaskant-van Wijk PA et al.

Transfusion, 0

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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."