Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P146S
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PRRT2

NM_145239.3:p.P146S

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

[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].

Zhu XM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

GnRH receptor mutations in isolated gonadotropic deficiency.

Chevrier L et al.

Molecular and Cellular Endocrinology, 2011

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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."