Varaico: Literature-Extracted Genetic Variants

Gene:PNKD
Variant:p.R320fs
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PNKD

NM_015488.5:p.R320fs

Associated Papers

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.

Tian WT et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."