Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.S79Y
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TTN

NM_001267550.2:p.S79Y

Associated Papers

TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients.

Vodnjov N et al.

Orphanet Journal of Rare Diseases, 2025

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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."