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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT2

Variant:p.S242fs

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PRRT2

NM_145239.3:p.S242fs

hg38:chr16:29813778 AGC>N

Associated Papers

[PRRT2 mutation and infantile convulsions].

Mathot M et al.

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

28870817 (PubMed )

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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."