Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1483K
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TSC2

NM_000548.5:p.R1483K

Associated Papers

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Gordo G et al.

Clinical Genetics, 2018

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."