Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.R64Q
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SLC14A1

NM_015865.7:p.R64Q

Associated Papers

Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.

Srivastava K et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Resolving Genotype-Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing.

Gueuning M et al.

Biomedicines, 2024

High-Throughput Next-Generation Sequencing of the Kidd Blood Group: Unexpected Antigen Expression Properties of Four Alleles and Detection of Novel Variants.

Vorholt SM et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2023

Development of anti-Jk3 associated with silenced Kidd antigen expression and a novel single nucleotide variant of the JK gene.

Manrai PA et al.

Immunohematology, 2021

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Dinardo CL et al.

Transfusion, 2021

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

JK null alleles identified from Japanese individuals with Jk(a−b−) phenotype.

Onodera T et al.

Vox Sanguinis, 2014

Nomenclature for red blood cell blood group alleles.

Storry JR

Transfusion, 2013

The mutation spectrum of the JK-null phenotype in the Chinese population.

Guo Z 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."