Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.P186R
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PNPLA2

NM_020376.4:p.P186R

Associated Papers

Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis.

Garcia MA et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

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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."