Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.G35934*
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TTN

NM_001267550.2:p.G35934*

Associated Papers

Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Wang G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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_S5

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Lahrouchi N et al.

Journal of the American College of Cardiology, 2017

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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."