Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q179*
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PRRT2

NM_145239.3:p.Q179*

Associated Papers

Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation.

Fan L et al.

Stem Cell Research, 2021

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 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."