Varaico: Literature-Extracted Genetic Variants

Gene:ITPA
Variant:p.L42Splc
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ITPA

NM_033453.4:p.L42Splc

Associated Papers

Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients.

Xiong H et al.

Fundamental & Clinical Pharmacology, 2010

Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.

Atanasova S et al.

Therapeutic Drug Monitoring, 2007

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.

Arenas M et al.

Biochimica Et Biophysica Acta, 2007

Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population.

Shipkova M et al.

Clinical Chemistry, 2006

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.

Maeda T et al.

Molecular Genetics and Metabolism, 2005

ITPA (inosine triphosphate pyrophosphatase): from surveillance of nucleotide pools to human disease and pharmacogenetics.

Simone PD et al.

Mutation Research, 0

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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."