Varaico: Literature-Extracted Genetic Variants

Gene:MLXIPL
Variant:p.Q241H
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MLXIPL

NM_032951.3:p.Q241H

Associated Papers

A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids.

Hehl L et al.

Hepatology Communications, 2024

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

Association between the rs3812316 Single Nucleotide Variant of the MLXIPL Gene and Alpha-Linolenic Acid Intake with Triglycerides in Mexican Mestizo Women.

Maldonado-González M et al.

Nutrients, 2022

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

Vujkovic M et al.

Nature Genetics, 2022

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nielsen JB et al.

Nature Communications, 2020

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND et al.

Molecular Genetics & Genomic Medicine, 2018

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S8

Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.

Lu X et al.

Human Molecular Genetics, 2016

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-12.pdf

Therapeutic Targets of Triglyceride Metabolism as Informed by Human Genetics.

Bauer RC et al.

Trends in Molecular Medicine, 2016

Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.

Aung LH et al.

Scientific Reports, 2014

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

24633158 (PubMed )
Supplement: NIHMS570373-supplement-1.pdf

Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.

Zhang X et al.

Trends in Genetics : Tig, 2014

Amino acid change in the carbohydrate response element binding protein is associated with lower triglycerides and myocardial infarction incidence depending on level of adherence to the Mediterranean diet in the PREDIMED trial.

Ortega-Azorín C et al.

Circulation. Cardiovascular Genetics, 2014

High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

Nakayama K et al.

Journal of Human Genetics, 2011

Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs.

Been LF et al.

Obesity (silver Spring, Md.), 2010

Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.

Nakayama K et al.

Journal of Medical Genetics, 2009

G771C Polymorphism in the MLXIPL Gene Is Associated with a Risk of Coronary Artery Disease in the Chinese: A Case-Control Study.

Pan LA et al.

Cardiology, 2009

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Mohlke KL et al.

Human Molecular Genetics, 2008

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

Kooner JS et al.

Nature Genetics, 2008

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