TSC2 c.4597_4598delinsGC ;(p.L1533A)

Variant ID: 16-2135258-CT-GC

NM_000548.3(TSC2):c.4597_4598delinsGC;(p.L1533A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural insights into TSC complex assembly and GAP activity on Rheb.

Nature Communications
Yang, Huirong H; Yu, Zishuo Z; Chen, Xizi X; Li, Jiabei J; Li, Ningning N; Cheng, Jiaxuan J; Gao, Ning N; Yuan, Hai-Xin HX; Ye, Dan D; Guan, Kun-Liang KL; Xu, Yanhui Y
Publication Date: 2021-01-12

Variant appearance in text: TSC2: L1533A
PubMed Link: 33436626
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20522.pdf
View BVdb publication page