Publications:

Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose.

Frontiers In Cardiovascular Medicine

Cadena-Ullauri, Santiago S; Guevara-Ramirez, Patricia P; Ruiz-Pozo, Viviana V; Tamayo-Trujillo, Rafael R; Paz-Cruz, Elius E; Sánchez Insuasty, Tatiana T; Doménech, Nieves N; Ibarra-Rodríguez, Adriana Alexandra AA; Zambrano, Ana Karina AK

Publication Date: 2022

Variant appearance in text: TTN: 8056A>G; Ile2686Val

PubMed Link: 36426223

Variant Present in the following documents:

• Main text
• fcvm-09-1037370.pdf

View BVdb publication page

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Norton, Nadine N; Li, Duanxiang D; Rampersaud, Evadnie E; Morales, Ana A; Martin, Eden R ER; Zuchner, Stephan S; Guo, Shengru S; Gonzalez, Michael M; Hedges, Dale J DJ; Robertson, Peggy D PD; Krumm, Niklas N; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,

Publication Date: 2013-04

Variant appearance in text: TTN: 8056A>G; Ile2686Val

PubMed Link: 23418287

Variant Present in the following documents:

• Main text

View BVdb publication page