Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.Y401*
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RHD

NM_016124.6:p.Y401*

Associated Papers

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

Yin Q

Functional & Integrative Genomics, 2023

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G et al.

Nature Neuroscience, 2016

27694994 (PubMed )
Supplement: NIHMS815183-supplement-supp_table3.xlsx › Supplemenary_Table_3

Comprehensive analysis of RHD splicing transcripts reveals the molecular basis for the weak anti-D reactivity of Del -red blood cells.

Chen DP et al.

Transfusion Medicine (oxford, England), 2016

Weak D alleles in Japanese: a c.960G>A silent mutation in exon 7 of the RHD gene that affects D expression.

Ogasawara K et al.

Vox Sanguinis, 2016

Clinical and laboratory update on the DEL variant.

Nuchnoi P et al.

Laboratory Medicine, 2014

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

Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study.

Gassner C et al.

Transfusion, 2005

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