Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort


Poster presented at the Curating the Clinical Genome 2018. Hinxton, Cambridge, UK on 23-25 May 2018


J. Chora, M. Iacocca, M. DiStefano, A. Carrié, T. Freiberger, S. Leigh, C. L. Kurtz, J. Defesche, E. Sijbrands, R. Hegele, J. Knowles, M. Bourbon
2018

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APA   Click to copy
Chora, J., Iacocca, M., DiStefano, M., Carrié, A., Freiberger, T., Leigh, S., … Bourbon, M. (2018). Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort.


Chicago/Turabian   Click to copy
Chora, J., M. Iacocca, M. DiStefano, A. Carrié, T. Freiberger, S. Leigh, C. L. Kurtz, et al. “Familial Hypercholesterolemia-Associated Variants Submitted to ClinVar: a ClinGen FH Effort,” 2018.


MLA   Click to copy
Chora, J., et al. Familial Hypercholesterolemia-Associated Variants Submitted to ClinVar: a ClinGen FH Effort. 2018.


BibTeX   Click to copy

@conference{j2018a,
  title = {Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort},
  year = {2018},
  author = {Chora, J. and Iacocca, M. and DiStefano, M. and Carrié, A. and Freiberger, T. and Leigh, S. and Kurtz, C. L. and Defesche, J. and Sijbrands, E. and Hegele, R. and Knowles, J. and Bourbon, M.}
}

Abstract

With thanks to Wellcome Genome Campus Scientific Conferences for support in the form of a bursary. The contents of this poster are presented on behalf of the ClinGen FH Variant Curation Committee. JR Chora was funded by SFRH/BD/108503/2015. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants: U41HG006834, U41HG009649, U41HG009650.


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