Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy
Overall, our study identified the distribution of MYH7 variants among patients with cardiomyopathy in Korea, offering new insights for improved diagnosis by enriching the data on the pathogenicity of novel variants using in silico tools and evaluating the function and structural stability of the MYH7 protein.
Authors
- Soyoung Lee (ORCID: https://orcid.org/0000-0002-4614-2931)
- Young Jun Kim (ORCID: https://orcid.org/0000-0003-2605-0922)
- Beom Hee Lee (ORCID: https://orcid.org/0000-0001-9709-2631)
- Oc-Hee Kim
- Hyun‐Young Park (ORCID: https://orcid.org/0000-0002-6698-7368)
- Mi‐Hyun Park (ORCID: https://orcid.org/0000-0002-2844-3546)
- Bong-Jo Kim
Institutions
- Korea University Medical Center (KR)
- Asan Medical Center (KR)
- University of Ulsan (KR)
- Korea National Institute of Health (KR)
- Sacred Heart Hospital (US)
- Hallym University Sacred Heart Hospital (KR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1186/s12920-024-02000-8
- Citations
- 4
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Korea Disease Control and Prevention Agency
- National Research Foundation
- Ministry of Science and ICT, South Korea
- Korea National Institute of Health