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Open Access
Peer-reviewed
Research Article
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
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Juha W. Koskenvuo ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Writing – original draft
* E-mail: juha.koskenvuo@blueprintgenetics.com
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Inka Saarinen,
Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Saija Ahonen,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Johanna Tommiska,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Sini Weckström,
Roles Conceptualization, Formal analysis, Funding acquisition, Writing – review & editing
Affiliation Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
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Eija H. Seppälä,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Sari Tuupanen,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Tiia Kangas-Kontio,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Jennifer Schleit,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Krista Heliö,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Julie Hathaway,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics Inc, a Quest Diagnostics Company, Seattle, Washington, United States of America
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Anders Gummesson,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden
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Pia Dahlberg,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden
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Tiina H. Ojala,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Pediatric Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
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Ville Vepsäläinen,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Heart Center, Kuopio University Hospital, Kuopio, Finland
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Ville Kytölä,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Mikko Muona,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Johanna Sistonen,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Pertteli Salmenperä,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Massimiliano Gentile,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Jussi Paananen,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Samuel Myllykangas,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland
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Tero-Pekka Alastalo,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Blueprint Genetics Inc, a Quest Diagnostics Company, Seattle, Washington, United States of America
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Tiina Heliö
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Writing – original draft
Affiliation Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
- Juha W. Koskenvuo,
- Inka Saarinen,
- Saija Ahonen,
- Johanna Tommiska,
- Sini Weckström,
- Eija H. Seppälä,
- Sari Tuupanen,
- Tiia Kangas-Kontio,
- Jennifer Schleit,
- Krista Heliö
- Published: February 3, 2021
- https://doi.org/10.1371/journal.pone.0245681