TSC2 c.548T>G ;(p.L183W)

Variant ID: 16-2105469-T-G

NM_000548.3(TSC2):c.548T>G;(p.L183W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry
Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D
Publication Date: 2016-09-16

Variant appearance in text: TSC2: L183W
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page