Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S601G
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TSC2

NM_000548.5:p.S601G

Associated Papers

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Ye Y et al.

Scientific Reports, 2019

Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

Hardy R et al.

The Oncologist, 2012

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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."