Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.F31_T32insFs
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RHD

NM_016124.6:p.F31_T32insFs

Associated Papers

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

Yin Q

Functional & Integrative Genomics, 2023

Maternal red blood cell alloimmunisation Working Party, literature review. RH blood group system: Rare specificities.

Floch A

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2021

A Review of the Literature Organized Into a New Database: RHeference.

Floch A et al.

Transfusion Medicine Reviews, 2021

Identification of a novel c.94dupA mutation in RHD allele.

Deng D et al.

Transfusion, 2020

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

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women.

Stegmann TC et al.

British Journal of Haematology, 2016

Molecular structures identified in serologically D- samples of an admixed population.

Trucco Boggione C et al.

Transfusion, 2014

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."