Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.V286M
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PRRT2

NM_145239.3:p.V286M

Associated Papers

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

The 'dispanins' and related proteins in physiology and neurological disease.

Deuis JR et al.

Trends in Neurosciences, 2024

Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.

Zhang Y et al.

Therapeutic Advances in Neurological Disorders, 2024

Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.

Sterlini B et al.

Neurobiology of Disease, 2023

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

Chen Y et al.

Frontiers of Medicine, 2021

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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."