Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S174R
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PRRT2

NM_145239.3:p.S174R

Associated Papers

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Quaio CRD'C et al.

Scientific Reports, 2022

35546177 (PubMed )
Supplement: 41598_2022_11932_MOESM1_ESM.xlsx › Supplementary_Table_-_Data

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Liu M et al.

Frontiers in Pediatrics, 2022

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A et al.

Seizure, 2019

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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."