Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R336G
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TSC1

NM_000368.5:p.R336G

Associated Papers

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

Negishi Y et al.

Bmc Medical Genetics, 2017

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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."