Publications:

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

Aging

Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y

Publication Date: 2020-01-12

Variant appearance in text: TSC2: 4013_4014delCA

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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[Two novel TSC2 frameshift mutations in tuberous sclerosis complex].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Pan, Yu-Chun YC; Wu, Wei-Qing WQ; Xie, Jian-Sheng JS; Luo, Cai-Qun CQ; Hao, Ying Y

Publication Date: 2017-03

Variant appearance in text: TSC2: Ser1338Cysfs

PubMed Link: 28302202

Variant Present in the following documents:

• Main text

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