The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification


Journal article


Chora JR, Iacocca MA, Tichý L, (...), Freiberger T, Knowles JW, Bourbon M, ClinGen Familial Hypercholesterolemia Expert Panel
Genetics in Medicine, vol. 24(2), 2022, pp. 293-306

DOI: 10.1016/j.gim.2021.09.012

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Cite

APA   Click to copy
JR, C., MA, I., L, T., (...), T, F., JW, K., … Panel, C. G. F. H. E. (2022). The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics in Medicine, 24(2), 293–306. https://doi.org/ 10.1016/j.gim.2021.09.012


Chicago/Turabian   Click to copy
JR, Chora, Iacocca MA, Tichý L, (...), Freiberger T, Knowles JW, Bourbon M, and ClinGen Familial Hypercholesterolemia Expert Panel. “The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel Consensus Guidelines for LDLR Variant Classification.” Genetics in Medicine 24, no. 2 (2022): 293–306.


MLA   Click to copy
JR, Chora, et al. “The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel Consensus Guidelines for LDLR Variant Classification.” Genetics in Medicine, vol. 24, no. 2, 2022, pp. 293–306, doi: 10.1016/j.gim.2021.09.012.


BibTeX   Click to copy

@article{chora2022a,
  title = {The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification},
  year = {2022},
  issue = {2},
  journal = {Genetics in Medicine},
  pages = {293-306},
  volume = {24},
  doi = { 10.1016/j.gim.2021.09.012},
  author = {JR, Chora and MA, Iacocca and L, Tichý and (...) and T, Freiberger and JW, Knowles and M, Bourbon and Panel, ClinGen Familial Hypercholesterolemia Expert}
}


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