Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E127delFs
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PRRT2

NM_145239.3:p.E127delFs

Associated Papers

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Liu M et al.

Frontiers in Pediatrics, 2022

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.

Law CY et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2016

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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."