Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.Y593D
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PNPLA8

NM_001256007.3:p.Y593D

Associated Papers

Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.

Chen B et al.

Journal of Neurology, 2024

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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."