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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

D. Cannie

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Open access Oct 2026

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.

Genetic variant interpretation in hypertrophic cardiomyopathy (HCM) evolves as population reference datasets expand, gene-disease validity assessments examine new candidate genes and additional functional and segregation evidence accumulates. Periodic re-interpretation is, therefore, necessary. Likely pathogenic/pathog...

A. Bakalakos, Rebeca Lorca, A. Protonotarios et al. · 0 citations
Open access Jul 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

Bai Fang, Kaiser Chua, Daniel Y. Li et al. · 0 citations

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