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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT2

Variant:p.G305fs

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PRRT2

NM_145239.3:p.G305fs

hg38:chr16:29814366 GGG>N

Associated Papers

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

32392383 (PubMed )

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Kim SY et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30198221 (PubMed )

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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."