Varaico: Literature-Extracted Genetic Variants

Gene:CD55
Variant:p.S199L
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CD55

NM_000574.5:p.S199L

Associated Papers

Complement dysregulation at lymphatics.

Ozen A et al.

The Journal of Allergy and Clinical Immunology, 2025

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.

Kurolap A et al.

Human Genetics, 2023

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Three new high-prevalence antigens in the Cromer blood group system.

Hue-Roye K et al.

Transfusion, 2007

Molecular basis of Cromer blood group antigens.

Lublin DM et al.

Transfusion, 2000

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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."