Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.N162_T163Splc
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RHD

NM_016124.6:p.N162_T163Splc

Associated Papers

RHD alleles contributing to serologically weak D phenotypes in China: A single-centre study over 10 years.

Ye L et al.

Vox Sanguinis, 2022

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

Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management.

McGowan EC et al.

Vox Sanguinis, 2017

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

Weak D phenotypes caused by intronic mutations in the RHD gene: four novel weak D alleles identified in the Chinese population.

Ye L et al.

Transfusion, 2013

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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."