Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.S291F
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TTN

NM_001267550.2:p.S291F

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Positional distribution and conservation of major phosphorylated sites in the human kinome.

Gopalakrishnan AP et al.

Frontiers in Molecular Biosciences, 2025

40270594 (PubMed )
Supplement: Table5.xlsx › Phospho_Seq_Variants

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Delplancq G et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."