Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"no hotspot mutation has been identified for these variants across the protein sequences of these two genes (supporting information: figures s1 and s2 with http://lindenb github io/pages/uniprot/paintsvg html )."
"CONFLICT OF INTEREST The authors declare no conflict of interest."
"The authors are greatly indebted to the patients included in the study. They thank Marie‐France Le Cunff and Noémie Bourgeais for assistance in patient recruitment. The authors gratefully thank all members of the FranceGenRef consortium supported by Grant No. ANR‐10‐LABX‐0013. J. B. is supported by the research program Etoiles montantes des Pays de la Loire REGIOCARD RPH081‐U1087‐REG‐PDL and this study is part of the CRITERIA project funded by the French Federation of Cardiology. We are most grateful to the Genomics and Bioinformatics Core Facility of Nantes (GenoBiRD, Biogenouest, IFB) for its technical support. We thank the biological resource centre for biobanking (CHU Nantes, Nantes Université, Centre de ressources biologiques (BB‐0033‐00040), Nantes, France) (Bravo et al., 2015). Richard Redon was supported by the Prix des Journées de l'Avenir 2019 funded by la Fondation de l'Avenir et la Ligue Nationale de Basket."
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Last Updated: Aug 05, 2025