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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3C2G

Variant:p.S195C

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PIK3C2G

NM_001288772.2:p.S195C

hg38:chr12:18282664 A>T

Associated Papers

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

D'Gama AM et al.

Annals of Neurology, 2015

25599672 (PubMed )

Supplement: supplement_1.docx

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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."