Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP2
Variant:p.A147P
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CEMIP2

NM_013390.3:p.A147P

Associated Papers

PRRT2 mutations are related to febrile seizures in epileptic patients.

He ZW et al.

International Journal of Molecular Sciences, 2014

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.

Chen YP et al.

European Journal of Neurology, 2014

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.

Jing XY et al.

Parkinsonism & Related Disorders, 2013

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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."