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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
Daniel M. Jordan, Adam Kieżun, Samantha M. Baxter, Vineeta Agarwala, Robert C. Green, Michael F. Murray, Trevor J. Pugh, Matthew S. Lebo 等 11 位
Brigham and Women's Hospital Harvard University Mass General Brigham Boston University
来源The American Journal of Human Genetics
年份2011
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生物医学Cardiomyopathy and Myosin Studies
Williams Syndrome Research · Cardiac Valve Diseases and Treatments
参考文献 30
[30] Prediction and analysis of coiled-coil structures
被引 584Andrei N. Lupas · Methods in enzymology on CD-ROM/Methods in enzymology · 1996
Ca 2+ -regulated structural changes in troponin
被引 308Maia V. Vinogradova, Deborah Bennett Stone, Galina G. Malanina · Proceedings of the National Academy of Sciences · 2005
Atomic Structure of Scallop Myosin Subfragment S1 Complexed with MgADP
被引 340Anne Houdusse, Vassilios N. Kalabokis, Daniel M. Himmel · Cell · 1999
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引用本文 78
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
被引 463Ahmed A. Alfares, Melissa Kelly, Gregory C McDermott · Genetics in Medicine · 2015
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
被引 381Trevor J. Pugh, Melissa Kelly, Sivakumar Gowrisankar · Genetics in Medicine · 2014
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
被引 241Yuya Kobayashi, Shan Yang, Keith Nykamp · Genome Medicine · 2017
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