Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.G63Splc
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PNPLA2

NM_020376.4:p.G63Splc

Associated Papers

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.

Tavian D et al.

Genes & Diseases, 2021

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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."