Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.G115C
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PNPLA3

NM_025225.3:p.G115C

Associated Papers

Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women.

Kim SK et al.

Diagnostics (basel, Switzerland), 2026

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction.

Nakajima R et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Identification of pleiotropic genetic variants affecting osteoporosis risk in a Korean elderly cohort.

Hong EP et al.

Journal of Bone and Mineral Metabolism, 2019

Screening for rare variants in the PNPLA3 gene in obese liver biopsy patients.

Zegers D et al.

Clinics and Research in Hepatology and Gastroenterology, 2016

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage.

Donati B et al.

Hepatology (baltimore, Md.), 2016

Hepatic patatin-like phospholipase domain-containing protein 3 sequence, single nucleotide polymorphism presence, protein confirmation, and responsiveness to energy balance in dairy cows.

McCann CC et al.

Journal of Dairy Science, 2014

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Romeo S et al.

Nature Genetics, 2008

Variation in the adiponutrin gene influences its expression and associates with obesity.

Johansson LE et al.

Diabetes, 2006

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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."