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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRICKLE1

Variant:p.A541S

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PRICKLE1

NM_153026.3:p.A541S

hg38:chr12:42464413 C>A

Associated Papers

Genetic characteristics of non-familial epilepsy.

Kang KW et al.

Peerj, 2019

31875159 (PubMed )

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

29924869 (PubMed )

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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."