Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S5N
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PRRT2

NM_145239.3:p.S5N

Associated Papers

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.

Happ HC et al.

Biorxiv : the Preprint Server for Biology, 2023

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Huguet G et al.

Plos One, 2014

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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."