Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.N162S
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RHD

NM_016124.6:p.N162S

Associated Papers

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

Insights into anti-D formation in carriers of RhD variants through studies of 3D intraprotein interactions.

Floch A et al.

Transfusion, 2021

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

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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."