Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.V247L
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RHD

NM_016124.6:p.V247L

Associated Papers

Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.

Wörner L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026

A novel RHD allele caused by c.739 G> C mutation was identified in a Chinese individual.

Lyu H et al.

Transfusion, 2021

The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.

Srivastava K et al.

Transfusion, 2016

Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.

Fichou Y et al.

Transfusion, 2012

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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."