Genetics in medicine : official journal of the American College of Medical Genetics
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen, Sergi Beltran, Holm Graessner, Lisenka Vissers, Richarda de Voer, Marielle van Gijn, Simona Balestrini, Holger Lerche, Gaëtan Lesca, Swethaa Natraj Gayathri, Kornelia Ellwanger
Published: 202510.1016/j.gim.2025.101649
Abstract
PURPOSE: Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% of the population carrying a rare TTN variant and over 60 million genomes expected to have…
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