Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Publication Year: 2022

DOI:
10.1002/humu.24436

PMCID:
PMC9544292

PMID:
35819174

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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4/6
66.7% Transparent
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Evidence found in paper:

"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 )."

Evidence found in paper:

"CONFLICT OF INTEREST The authors declare no conflict of interest."

Evidence found in paper:

"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