Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q1192_G1193insFs
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TSC2

NM_000548.5:p.Q1192_G1193insFs

Associated Papers

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

A Chinese tuberous sclerosis complex family and a novel tuberous sclerosis complex-2 mutation.

Luo R et al.

Chinese Medical Journal, 2015

[Report of two infant with tuberous sclerosis].

Tong GL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

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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."