Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.S112Splc
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RHD

NM_016124.6:p.S112Splc

Associated Papers

Combining computational approaches and functional analysis for characterizing the deleterious effect of RHD gene variants on splicing in the Chinese population.

Jia S et al.

Transfusion, 2025

DEL variants: review of molecular mechanisms, clinical consequences and molecular testing strategy.

Yin Q

Functional & Integrative Genomics, 2023

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

Comprehensive analysis of RHD splicing transcripts reveals the molecular basis for the weak anti-D reactivity of Del -red blood cells.

Chen DP et al.

Transfusion Medicine (oxford, England), 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

The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes.

Scott SA et al.

Transfusion, 2014

Clinical and laboratory update on the DEL variant.

Nuchnoi P et al.

Laboratory Medicine, 2014

Is current serologic RhD typing of blood donors sufficient for avoiding immunization of recipients?

Krog GR et al.

Transfusion, 2011

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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."