TTN c.47828C>T ;(p.S15943L)

Variant ID: 2-179481894-G-A

NM_001267550.1(TTN):c.47828C>T;(p.S15943L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Fan, Chunxiang C; Kuhn, Marius M; Mbiol, Alexander Pepler AP; Groome, James J; Winston, Vern V; Biskup, Saskia S; Lehmann-Horn, Frank F; Jurkat-Rott, Karin K
Publication Date: 2018-09

Variant appearance in text: TTN: 47828C>T
PubMed Link: 30838349
Variant Present in the following documents:
  • Main text
  • am-2018-03-193.pdf
View BVdb publication page