Varaico: Literature-Extracted Genetic Variants

Gene:PNKD
Variant:p.P341fs
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PNKD

NM_015488.5:p.P341fs

Associated Papers

The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.

Sun N et al.

Molecular Psychiatry, 2018

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

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Gardiner AR et al.

Brain : a Journal of Neurology, 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."