Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.V1100G
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PNPLA6

NM_001166114.2:p.V1100G

Associated Papers

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Teive HAG et al.

Cerebellum (london, England), 2018

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Koh K et al.

Journal of Human Genetics, 2015

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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."