Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.S112I
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RHD

NM_016124.6:p.S112I

Associated Papers

Identification of a novel RHD allele with c.336T>G that causes weakened RhD antigen expression.

Li M et al.

Transfusion, 2024

Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique.

de Paula Vendrame TA et al.

Vox Sanguinis, 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

Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women.

Stegmann TC et al.

British Journal of Haematology, 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

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