Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.H1130Y
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PNPLA6

NM_001166111.2:p.H1130Y

Associated Papers

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu J et al.

Brain : a Journal of Neurology, 2024

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

Liu J et al.

Biorxiv : the Preprint Server for Biology, 2023

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 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."