TSC2 c.3755C>T ;(p.S1252L)

Variant ID: 16-2131740-C-T

NM_000548.3(TSC2):c.3755C>T;(p.S1252L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One
Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N
Publication Date: 2019

Variant appearance in text: TSC2: Ser1252Leu
PubMed Link: 31856217
Variant Present in the following documents:
  • Main text
  • pone.0226400.s004.xlsx, sheet 4
  • pone.0226400.s008.xlsx, sheet 1
  • pone.0226400.pdf
View BVdb publication page