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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
Genet Med. 2022.
PMID: 35507016
Free PMC article.
Characterizing genetic variants for clinical action.
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS.
Ramos EM, et al.
Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13.
Am J Med Genet C Semin Med Genet. 2014.
PMID: 24634402
Free PMC article.
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High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C.
Nik-Zainal S, et al.
J Med Genet. 2011 Mar;48(3):197-204. doi: 10.1136/jmg.2010.082412. Epub 2011 Jan 28.
J Med Genet. 2011.
PMID: 21278390
Free PMC article.
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Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative.
COVID-19 Host Genetics Initiative.
Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8.
Nature. 2021.
PMID: 34237774
Free PMC article.
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A first update on mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative.
COVID-19 Host Genetics Initiative.
Nature. 2022 Aug;608(7921):E1-E10. doi: 10.1038/s41586-022-04826-7. Epub 2022 Aug 3.
Nature. 2022.
PMID: 35922517
Free PMC article.
No abstract available.
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