Exportar referência
APA
Joana R. Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre Costa Pereira, Cinthia E. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrié, Eric J. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon, (2022). The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics in Medicine, 24, 293-306. ISSN 1098-3600. eISSN . https://doi.org/10.1016/j.gim.2021.09.012
IEEE
Joana R. Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre Costa Pereira, Cinthia E. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrié, Eric J. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon, "The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification" in Genetics in Medicine, vol. 24, pp. 293-306, 2022.
10.1016/j.gim.2021.09.012
BIBTEX
@article{62830,
author = {Joana R. Chora and Michael A. Iacocca and Lukáš Tichý and Hannah Wand and C. Lisa Kurtz and Heather Zimmermann and Annette Leon and Maggie Williams and Steve E. Humphries and Amanda J. Hooper and Mark Trinder and Liam R. Brunham and Alexandre Costa Pereira and Cinthia E. Jannes and Margaret Chen and Jessica Chonis and Jian Wang and Serra Kim and Tami Johnston and Premysl Soucek and Michal Kramarek and Sarah E. Leigh and Alain Carrié and Eric J. Sijbrands and Robert A. Hegele and Tomáš Freiberger and Joshua W. Knowles and Mafalda Bourbon},
title = {The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification},
journal = {Genetics in Medicine},
year = 2022,
pages = {293-306},
volume = 24
}