Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.G212C
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RHD

NM_016124.6:p.G212C

Associated Papers

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

Prevalence of RHD alleles in Japanese individuals with weak D phenotype: Identification of 20 new RHD alleles.

Isa K et al.

Vox Sanguinis, 2016

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

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

Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations.

Flegel WA et al.

Transfusion, 2009

[Molecular approaches to the Rh blood group system].

Kajii E

Nihon Hoigaku Zasshi = the Japanese Journal of Legal Medicine, 2006

Random survey for RHD alleles among D+ European persons.

Chen Q et al.

Transfusion, 2005

The evolution and formation of RH genes.

Okuda H et al.

Legal Medicine (tokyo, Japan), 2002

Molecular characterization of weak D phenotypes by site-directed mutagenesis and expression of mutant Rh-green fluorescence protein fusions in K562 cells.

Kamesaki T et al.

Vox Sanguinis, 2001

Advance in the Rh blood group system.

Kajii E

Nihon Hoigaku Zasshi = the Japanese Journal of Legal Medicine, 1998

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