Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.L69L
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SLC22A4

NM_003059.3:p.L69L

Associated Papers

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Park SC et al.

Cells, 2019

Association study between OCTN1 functional haplotypes and Crohn's disease in a Korean population.

Jung ES et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2017

Identification and Functional Characterization of Novel Genetic Variations in the OCTN1 Promoter.

Park HJ et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2014

Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

Tahara H et al.

The Journal of Pharmacology and Experimental Therapeutics, 2009

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis.

Russell RK et al.

Genes and Immunity, 2008

Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.

Gaj P et al.

Bmc Medical Genetics, 2008

OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.

Li M et al.

World Journal of Gastroenterology, 2008

Genetics of inflammatory bowel disease: clues to pathogenesis.

Zhang H et al.

British Medical Bulletin, 2008

The genetics of inflammatory bowel disease.

Van Limbergen J et al.

The American Journal of Gastroenterology, 2007

Functional effects of protein sequence polymorphisms in the organic cation/ergothioneine transporter OCTN1 (SLC22A4).

Urban TJ et al.

Pharmacogenetics and Genomics, 2007

Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.

Latiano A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2007

Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.

Cucchiara S et al.

World Journal of Gastroenterology, 2007

Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus.

Achkar JP et al.

The American Journal of Gastroenterology, 2006

Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population.

Martínez A et al.

European Journal of Human Genetics : Ejhg, 2006

Functional variants of OCTN cation transporter genes are associated with Crohn disease.

Peltekova VD et al.

Nature Genetics, 2004

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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."