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DSP c.3399C>G ;(p.D1133E)
Variant ID: 6-7579822-C-G
NM_004415.2(
DSP
):c.3399C>G;(p.D1133E)
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:
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016
Variant appearance in text: DSP: 3399C>G; D1133E
PubMed Link:
27930701
Variant Present in the following documents:
Main text
pone.0167358.pdf
View BVdb publication page