Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR1
Variant:p.P483P
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PHACTR1

NM_030948.6:p.P483P

Associated Papers

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Hamada N et al.

Brain : a Journal of Neurology, 2018

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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."