Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L597P
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KEL

NM_000420.3:p.L597P

Associated Papers

Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis.

Chao HX et al.

Transfusion, 2025

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.

Mazières S et al.

Scientific Reports, 2025

39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S7

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

Mayr G et al.

Frontiers in Immunology, 2024

Next-Generation Sequencing Technologies in Blood Group Typing.

Fürst D et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

Volkova E et al.

The Journal of Molecular Diagnostics : Jmd, 2019

New insights into the pathogenicity of non-synonymous variants through multi-level analysis.

Sun H et al.

Scientific Reports, 2019

Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

Montemayor-Garcia C et al.

Transfusion, 2018

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

An easy and efficient strategy for KEL genotyping in a multiethnic population.

Arnoni CP et al.

Revista Brasileira De Hematologia E Hemoterapia, 2013

Kell blood group system polymorphism in an urban Tunisian population.

Bani M et al.

Biochemical Genetics, 2011

High-throughput red blood cell antigen genotyping using a nanofluidic real-time polymerase chain reaction platform.

Hopp K et al.

Transfusion, 2010

Molecular defects underlying the Kell null phenotype.

Lee S et al.

The Journal of Biological Chemistry, 2001

Functional and structural aspects of the Kell blood group system.

Lee S et al.

Transfusion Medicine Reviews, 2000

Identification of a defect in the intracellular trafficking of a Kell blood group variant.

Yazdanbakhsh K et al.

Blood, 1999

The KEL24 and KEL14 alleles of the Kell blood group system.

Lee S et al.

Transfusion, 1997

Molecular basis of Kell blood group phenotypes.

Lee S

Vox Sanguinis, 1997

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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."