Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study


Journal article


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

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APA   Click to copy
Kurtz, C. L., Carrié, A., Chora, J., Iacocca, M., Leigh, S., Freiberger, T., … Bourbon, M. (2018). Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study.


Chicago/Turabian   Click to copy
Kurtz, C. L., A. Carrié, J. Chora, M. Iacocca, S. Leigh, T. Freiberger, L. Tichý, et al. “Specification of ACMG/AMP Variant Classification Guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study” (2018).


MLA   Click to copy
Kurtz, C. L., et al. Specification of ACMG/AMP Variant Classification Guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study. 2018.


BibTeX   Click to copy

@article{c2018a,
  title = {Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study},
  year = {2018},
  author = {Kurtz, C. L. and Carrié, A. and Chora, J. and Iacocca, M. and Leigh, S. and Freiberger, T. and Tichý, L. and Defesche, J. and Hegele, R. and Sijbrands, E. and Knowles, J. and Bourbon, M.}
}