Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.V50V
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RHD

NM_016124.6:p.V50V

Associated Papers

RHD genotyping to resolve weak and discrepant RhD patient phenotypes.

Barriteau CM et al.

Transfusion, 2022

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

Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles.

Vege S 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

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S3

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Fichou Y et al.

Transfusion, 2015

RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification.

Haer-Wigman L et al.

Transfusion, 2013

DIII Type 7 is likely the original serologically defined DIIIb.

Lomas-Francis C et al.

Transfusion, 2012

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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."