Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S95*
Back to variants list

PRRT2

NM_145239.3:p.S95*

Associated Papers

Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series.

Iwanami N et al.

Sage Open Medical Case Reports, 2024

The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.

Luo HY et al.

Frontiers in Pediatrics, 2021

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."