Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.R293W
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KEL

NM_000420.3:p.R293W

Associated Papers

Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.

Wörner L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

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

Mayr G et al.

Frontiers in Immunology, 2024

Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Saadeh FS et al.

Plos One, 2020

33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1

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

Montemayor-Garcia C et al.

Transfusion, 2018

Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Nikolaev S et al.

Nature Communications, 2014

25471132 (PubMed )
Supplement: NIHMS60838-supplement-Supplementary_Data_2.xlsx › SupplementaryData2

International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).

Storry JR et al.

Vox Sanguinis, 2014

Expansion of the Kell blood group system: two new high-prevalence antigens and two novel K0 (Kellnull ) phenotypes.

Lomas-Francis C et al.

Transfusion, 2013

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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."