Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.P48L
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AMPD1

NM_000036.3:p.P48L

Associated Papers

Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Turner RM et al.

Journal of Clinical Medicine, 2019

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Hu LY et al.

Biomed Research International, 2015

Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.

Zhang C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.

Safranow K et al.

Journal of Applied Genetics, 2011

Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.

Safranow K et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2009

Pharmacogenomics of statin response.

Mangravite LM et al.

Current Opinion in Molecular Therapeutics, 2008

Genetic risk factors associated with lipid-lowering drug-induced myopathies.

Vladutiu GD et al.

Muscle & Nerve, 2006

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

Isackson PJ et al.

Molecular Genetics and Metabolism, 2005

Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.

Goodarzi MO et al.

Diabetes, 2005

Haplotype analysis of human AMPD1 gene: origin of common mutant allele.

Toyama K et al.

Journal of Medical Genetics, 2004

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.

Vladutiu GD et al.

The Journal of Pediatrics, 2002

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

Isackson PJ et al.

Molecular Genetics and Metabolism, 0

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Vladutiu GD et al.

Molecular Genetics and Metabolism, 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."