Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q157*
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PRRT2

NM_145239.3:p.Q157*

Associated Papers

The role of lamin B2 in human diseases.

Li Y et al.

Gene, 2023

Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review.

Liu Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

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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."