Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.Q156H
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AMPD1

NM_000036.3:p.Q156H

Associated Papers

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Rannou F et al.

Plos One, 2017

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

Hu LY et al.

Biomed Research International, 2015

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

Safranow K et al.

Journal of Applied Genetics, 2011

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.

Hanisch F et al.

Journal of Neurology, 2008

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

Goodarzi MO et al.

Diabetes, 2005

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE et al.

Journal of Inherited Metabolic Disease, 2003

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

Gross M et al.

Neuromuscular Disorders : Nmd, 2002

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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."