PC c.2182G>T ;(p.E728*)

Variant ID: 11-66618552-C-A

NM_001040716.1(PC):c.2182G>T;(p.E728*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One
Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S
Publication Date: 2017

Variant appearance in text: PC: 2182G>T; E728X
PubMed Link: 28750076
Variant Present in the following documents:
  • Main text
  • pone.0181842.pdf
View BVdb publication page