Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.G385Splc
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RHD

NM_016124.6:p.G385Splc

Associated Papers

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

Yin Q

Functional & Integrative Genomics, 2023

Investigation of the intronic variant RHD:c.1154-31C>T designated as RHD*01EL.37.

Rui X et al.

Vox Sanguinis, 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

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.

Le Maréchal C et al.

Transfusion, 2007

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