Mutation update for the ACTN2 gene.
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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"CONFLICT OF INTEREST The authors declare no conflict of interest."
"We thank Xaviere Lornage for sharing preliminary data. We also thank Prof. Den Dunnen and the team of the Leiden Open Database for establishing and maintaining the freely accessible data set. M. S. is supported by Association Française contre les Myopathies (grant #23281: “The expanding spectrum of ACTN2‐related myopathies”), Academy of Finland (grant #339437: “Improving the clinical interpretation of sequence variants”) and Sydäntutkimussäätiö. P. H. is supported by Erkko Foundation. B. U. is supported by Academy of Finland. M. O. is supported by Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III, Spain and FEDER funds “A way to make Europe”/“Investing in your future” under Grant PI21/01621."
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Last Updated: Aug 05, 2025