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P. Theotokis

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Open access Sep 2026

MAP3K7 Loss of Function Causes Dilated Cardiomyopathy

It is demonstrated that MAP3K7 variants can cause apparently isolated DCM, expanding the phenotypic spectrum of MAP3K7-related disorders, and establishing an association between MAP3K7 loss of function variants and DCM.

K. Josephs, C. Smith-Díaz, A. Woods et al. · 0 citations
Open access Aug 2026

Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies

The results indicate that pangenome-based workflows aid improved detection of large variants from targeted sequencing data in the clinical context and suggest that they may contribute to more unified variant detection frameworks for all-size genetic variants in the future.

F. Mazzarotto, Özem Kalay, E. Arslan et al. · 0 citations

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