Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.M1V
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ACACA

NM_198834.3:p.M1V

Associated Papers

Germline SDHA mutations in children and adults with cancer.

Dubard Gault M et al.

Cold Spring Harbor Molecular Case Studies, 2018

Polymorphism in ion channel genes of Dirofilaria immitis: Relevant knowledge for future anthelmintic drug design.

Mani T et al.

International Journal for Parasitology. Drugs and Drug Resistance, 2016

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Urbán Z et al.

Human Genetics, 2000

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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."