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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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