Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.S158F
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SLC29A3

NM_018344.6:p.S158F

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).

Aizpurua-Iraola J et al.

Scientific Reports, 2025

39753655 (PubMed )
Supplement: 41598_2024_84271_MOESM1_ESM.xlsx › STable_9

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.

Ma H et al.

Experimental Cell Research, 2024

Impact of genetic variants in the solute carrier (SLC) genes encoding drug uptake transporters on the response to anticancer chemotherapy.

Marin JJG et al.

Cancer Drug Resistance (alhambra, Calif.), 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Zhao J et al.

Scientific Reports, 2022

36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Lei P et al.

Plos One, 2022

36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Pharmacogenetics of treatments for pancreatic cancer.

El Hassouni B et al.

Expert Opinion on Drug Metabolism & Toxicology, 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

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Host genetic variation impacts microbiome composition across human body sites.

Blekhman R et al.

Genome Biology, 2015

26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.pdf

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

Huber-Ruano I et al.

Biochemical and Biophysical Research Communications, 2012

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.

Bakhchane A et al.

Current Research in Translational Medicine, 0

Exploring the impact of pharmacogenetics on personalized medicine: A systematic review.

Amaro-Álvarez L et al.

Farmacia Hospitalaria : Organo Oficial De Expresion Cientifica De La Sociedad Espanola De Farmacia Hospitalaria, 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."