Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel


Oral communication presented at the 88th European Atherosclerosis Society Congress. Virtual congress on 4-7 October 2020


M. Iacocca, J. Chora, T. Freiberger, A. Carrié, E. Sijbrands, H. Wand, Maggie Williams, H. Zimmermann, A. Leon, C. L. Kurtz, L. Tichý, A. Alves, Jian Wang, M. Cuchel, S. Humphries, J. Defesche, P. Mata, R. Santos, I. Kullo, L. Brunham, R. Hegele, J. Knowles, M. Bourbon
Atherosclerosis, issue 315, 2020 Dec 1, pp. e5


Semantic Scholar DOI
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APA   Click to copy
Iacocca, M., Chora, J., Freiberger, T., Carrié, A., Sijbrands, E., Wand, H., … Bourbon, M. (2020). Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel. In Atherosclerosis (p. e5). https://doi.org/10.1016/j.atherosclerosis.2020.10.030


Chicago/Turabian   Click to copy
Iacocca, M., J. Chora, T. Freiberger, A. Carrié, E. Sijbrands, H. Wand, Maggie Williams, et al. “Specification of ACMG/AMP Guidelines for Standardized Variant Interpretation in Familial Hypercholesterolemia: On Behalf of the Clingen FH Variant Curation Expert Panel.” In Atherosclerosis, e5, 2020.


MLA   Click to copy
Iacocca, M., et al. “Specification of ACMG/AMP Guidelines for Standardized Variant Interpretation in Familial Hypercholesterolemia: On Behalf of the Clingen FH Variant Curation Expert Panel.” Atherosclerosis, no. 315, 2020, p. e5, doi:10.1016/j.atherosclerosis.2020.10.030.


BibTeX   Click to copy

@conference{m2020a,
  title = {Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel},
  year = {2020},
  month = dec,
  day = {1},
  issue = {315},
  journal = {Atherosclerosis},
  pages = {e5},
  doi = {10.1016/j.atherosclerosis.2020.10.030},
  author = {Iacocca, M. and Chora, J. and Freiberger, T. and Carrié, A. and Sijbrands, E. and Wand, H. and Williams, Maggie and Zimmermann, H. and Leon, A. and Kurtz, C. L. and Tichý, L. and Alves, A. and Wang, Jian and Cuchel, M. and Humphries, S. and Defesche, J. and Mata, P. and Santos, R. and Kullo, I. and Brunham, L. and Hegele, R. and Knowles, J. and Bourbon, M.},
  month_numeric = {12}
}


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