Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.Q49delFs
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RHD

NM_016124.6:p.Q49delFs

Associated Papers

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

Yin Q

Functional & Integrative Genomics, 2023

Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma.

Pazourkova E et al.

Vox Sanguinis, 2021

Frameshift variations in the RHD coding sequence: Molecular mechanisms permitting protein expression.

Flegel WA et al.

Transfusion, 2020

Genotyping by sequencing defines independent novel RHD variants for an antenatal patient and a blood donor.

Lopez GH et al.

Transfusion, 2017

Clinical and laboratory update on the DEL variant.

Nuchnoi P et al.

Laboratory Medicine, 2014

Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.

Chen JM et al.

Transfusion, 2013

Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations.

Flegel WA et al.

Transfusion, 2009

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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."