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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA6

Variant:p.E579K

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PNPLA6

NM_001166111.2:p.E579K

hg38:chr19:7550006 G>A

Associated Papers

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu J et al.

Brain : a Journal of Neurology, 2024

38735647 (PubMed )

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

Liu J et al.

Biorxiv : the Preprint Server for Biology, 2023

37333224 (PubMed )

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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."