Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.E1028_W1029insFs
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PNPLA6

NM_001166114.2:p.E1028_W1029insFs

Associated Papers

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Durmaz Çelik N et al.

Bmc Medical Genomics, 2023

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

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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."