Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.G385D
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RHD

NM_016124.6:p.G385D

Associated Papers

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Raud L et al.

Transfusion, 2021

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

RHD genotype and zygosity analysis in the Chinese Southern Han D+, D- and D variant donors using the multiplex ligation-dependent probe amplification assay.

Ji YL et al.

Vox Sanguinis, 2017

New RHD variant alleles.

Garcia F et al.

Transfusion, 2015

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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."