Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.Q755P
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RNF216

NM_207111.4:p.Q755P

Associated Papers

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.

Locci S et al.

Clinical Neurology and Neurosurgery, 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."