Varaico: Literature-Extracted Genetic Variants

Gene:SLC28A1
Variant:p.R510C
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SLC28A1

NM_004213.5:p.R510C

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Pérez-Torras S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy.

Limviphuvadh V et al.

Bmc Cancer, 2018

29751792 (PubMed )
Supplement: 12885_2018_4471_MOESM1_ESM.zip › TableS2R2.xlsx › Table_S2

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Genetic factors affecting drug disposition in Asian cancer patients.

Syn NL et al.

Expert Opinion on Drug Metabolism & Toxicology, 2015

Identification and analysis of single-nucleotide polymorphisms in the gemcitabine pharmacologic pathway.

Fukunaga AK et al.

The Pharmacogenomics Journal, 2004

Gemcitabine and platinum pathway pharmacogenetics in Asian breast cancer patients.

Wong AL et al.

Cancer Genomics & Proteomics, 0

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