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