Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.P195L
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ABHD5

NM_016006.6:p.P195L

Associated Papers

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Janssen MC et al.

European Journal of Human Genetics : Ejhg, 2013

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

Coassin S et al.

Plos Genetics, 2010

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.

Schweiger M et al.

American Journal of Physiology. Endocrinology and Metabolism, 2009

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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."