Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.G212Splc
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RHD

NM_016124.6:p.G212Splc

Associated Papers

A novel RHD*01N allele harboring a c.634+1G>A splice site variant results in the RhD-negative phenotype in a Chinese blood donor.

Zhang X et al.

Transfusion, 2025

Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.

Thongbut J 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

Weak D alleles in Japanese: a c.960G>A silent mutation in exon 7 of the RHD gene that affects D expression.

Ogasawara 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

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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."