Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.Q19882*
Back to variants list

TTN

NM_133378.4:p.Q19882*

Associated Papers

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.

Kim YG et al.

Frontiers in Genetics, 2022

36685919 (PubMed )
Supplement: Table2.XLSX › Table_S2

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.

Akhtar MM et al.

Circulation. Heart Failure, 2020

32964742 (PubMed )
Supplement: circhf_circhf-2019-006832_supp1.pdf

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C et al.

Journal of Translational Medicine, 2018

Titin-truncating variants affect heart function in disease cohorts and the general population.

Schafer S et al.

Nature Genetics, 2017

27869827 (PubMed )
Supplement: NIHMS70344-supplement-Supplementary_Tables.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."