Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.L390L
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RHD

NM_016124.6:p.L390L

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

Alloanti-D induction in a rare RhD variant (DBT-2) case: Insights from serological and molecular biological testing.

Xu Z et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025

Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Chang TC et al.

Blood Advances, 2024

38522094 (PubMed )
Supplement: BLOODA_ADV-2023-011660-mmc1.xlsx › Rh__2_

The synonymous nucleotide substitution RHD 1056C>G alters mRNA splicing associated with serologically weak D phenotype.

Chun S et al.

Journal of Clinical Laboratory Analysis, 2018

Molecular characterization of three novel weak D type alleles with additional haplotype data on weak D Types 1.2 and 18.

Anani WQ et al.

Transfusion, 2017

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

Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles.

Silvy M 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."