Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.T253I
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TTN

NM_001267550.2:p.T253I

Associated Papers

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

Martínez-Barrios E et al.

Journal of Personalized Medicine, 2022

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Endo Y et al.

Neurology. Genetics, 2015

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.

Campuzano O et al.

International Journal of Molecular Sciences, 2015

26516846 (PubMed )
Supplement: ijms-16-25773-s001.zip › ijms-94850-Supplementary_Information › Table_S1.xls › Table_S1
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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."