TSC2 c.3953A>G ;(p.E1318G)

Variant ID: 16-2133765-A-G

NM_000548.3(TSC2):c.3953A>G;(p.E1318G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family.

Genetics And Molecular Biology
Duan, Yongheng Y; Lin, Sheng S; Xie, Lichun L; Zheng, Kaifeng K; Chen, Shiguo S; Song, Hui H; Zeng, Xuchun X; Gu, Xueying X; Wang, Heyun H; Zhang, Linghua L; Shao, Hao H; Hong, Wenxu W; Zhang, Lijie L; Duan, Shan S
Publication Date: 2017

Variant appearance in text: TSC2: 3953A>G; Glu1318Gly
PubMed Link: 28863211
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-1678-4685-GMB-2016-0249.pdf
View BVdb publication page