Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A214fs
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PRRT2

NM_145239.3:p.A214fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Chen Y et al.

Frontiers of Medicine, 2021

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 2018

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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."