TTN c.84774_84775insT ;(p.P28259Sfs*2)

Variant ID: 2-179426084-G-GA

NM_001267550.1(TTN):c.84774_84775insT;(p.P28259Sfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 84774insT
PubMed Link: 23418287
Variant Present in the following documents:
  • Main text
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