Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant

Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant

Titin truncating variants are a well-established cause of cardiomyopathy; however, the role of titin missense variants is less well understood. Here we describe the generation of a mouse model to investigate the underlying disease mechanism of a previously reported titin A178D missense variant ident...

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Bibliographic Details
Main Authors: Jiang, H, Hooper, C, Kelly, M, Steeples, V, Simon, J, Beglova, J, Azad, AJ, Leinhos, L, Bennett, P, Ehler, E, Kalisch-Smith, J, Sparrow, D, Fischer, R, Heilig, R, Isackson, H, Ehsan, M, Patone, G, Huebner, N, Davies, B, Watkins, H, Gehmlich, K
Format: Journal article
Language:English
Published: Springer 2021

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