Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S242_S244delFs
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PRRT2

NM_145239.3:p.S242_S244delFs

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

[PRRT2 mutation and infantile convulsions].

Mathot M et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017

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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."