Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.P289S
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ABHD5

NM_016006.6:p.P289S

Associated Papers

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

Fiorillo C et al.

Biochemical and Biophysical Research Communications, 2013

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P et al.

Journal of Neurology, 2011

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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."