Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.T319M
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SLC14A1

NM_015865.7:p.T319M

Associated Papers

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

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.

Zhang A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 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

A novel JKA allele, nt561C>A, associated with silencing of Kidd expression.

Horn T et al.

Transfusion, 2012

Genomic characterisation of the Jk(a-b-) phenotype in Thai blood donors.

Sriwanitchrak P et al.

Blood Transfusion = Trasfusione Del Sangue, 2012

Characterization of Jk(a+(weak)): a new blood group phenotype associated with an altered JK*01 allele.

Wester ES et al.

Transfusion, 2011

Erythroid urea transporter deficiency due to novel JKnull alleles.

Wester ES et al.

Transfusion, 2008

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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."