Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T108delFs
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PRRT2

NM_145239.3:p.T108delFs

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Döring JH et al.

Biomedicines, 2020

33126500 (PubMed )
Supplement: biomedicines-08-00456-s001.pdf

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Zeng Q et al.

Journal of Human Genetics, 2018

[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].

Yang X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."