Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.V50Splc
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RHD

NM_016124.6:p.V50Splc

Associated Papers

A Bioinformatically Initiated Approach to Evaluate GATA1 Regulatory Regions in Samples with Weak D, Del, or D- Phenotypes Despite Normal RHD Exons.

McGowan EC et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2024

40 years of researching the Del phenotype results in a change of transfusion practice.

Flegel WA et al.

Transfusion, 2024

DEL variants: review of molecular mechanisms, clinical consequences and molecular testing strategy.

Yin Q

Functional & Integrative Genomics, 2023

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Raud L et al.

Transfusion, 2019

The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes.

Scott SA et al.

Transfusion, 2014

Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai.

Li Q et al.

Vox Sanguinis, 2009

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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."