Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.P156delFs
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PNPLA2

NM_020376.4:p.P156delFs

Associated Papers

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2019

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.

Zheng S et al.

Bmc Medical Genetics, 2018

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Lin P et al.

Journal of Human Genetics, 2012

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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."