Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S676N
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KEL

NM_000420.3:p.S676N

Associated Papers

A structure-based in silico analysis of the Kell blood group system.

Mayr G et al.

Frontiers in Immunology, 2024

Molecular Basis of KELnull Phenotype in Brazilians.

Boturão-Neto E et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2015

Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.

Matteocci A et al.

Transfusion, 2014

Three novel alleles in the Kell blood group system resulting in the Knull phenotype and the first in a Native American.

Moulds JM et al.

Transfusion, 2013

Genetic diversity of KELnull and KELel: a nationwide Austrian survey.

Körmöczi GF et al.

Transfusion, 2007

Genetic basis of the K(0) phenotype in the Swedish population.

Wester ES et al.

Transfusion, 2005

Mutations that diminish expression of Kell surface protein and lead to the Kmod RBC phenotype.

Lee S et al.

Transfusion, 2003

Molecular defects underlying the Kell null phenotype.

Lee S et al.

The Journal of Biological Chemistry, 2001

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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."