Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.R114Splc
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SLC14A1

NM_015865.7:p.R114Splc

Associated Papers

A novel Jk-null allele derived from c.383T>C in exon 5 of the SLC14A1 gene.

Zhao Y et al.

Transfusion, 2025

[Molecular Biological Mechanism and Transfusion Strategy of a Jk(a-b-) Family].

Li XY et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2025

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

A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype.

Yang J et al.

Transfusion Medicine (oxford, England), 2024

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

Gueuning M et al.

Biomedicines, 2024

[Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area].

Zhang N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan.

Yang MH et al.

Vox Sanguinis, 2022

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R

Blood group antigen and phenotype prevalence in the Korean population compared to other ethnic populations and its association with RBC alloantibody frequency.

Jekarl DW et al.

Transfusion Medicine (oxford, England), 2019

Automated typing of red blood cell and platelet antigens from whole exome sequences.

Lane WJ et al.

Transfusion, 2019

Genotyping and serotyping profiles showed weak Jka presentation for previously typed as Jknull donors.

Wu PC et al.

Vox Sanguinis, 2019

Nomenclature for red blood cell blood group alleles.

Storry JR

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."