Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.E177K
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PRRT2

NM_145239.3:p.E177K

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Zhao SY et al.

Cns Neuroscience & Therapeutics, 2020

The choC gene encoding a putative phospholipid methyltransferase is essential for growth and development in Aspergillus nidulans.

Tao L et al.

Current Genetics, 2010

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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."