Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.Q49Q
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RHD

NM_016124.6:p.Q49Q

Associated Papers

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Raud L et al.

Transfusion, 2019

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

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."