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2005 | 1 |
2017 | 1 |
2024 | 0 |
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I.
D'Osualdo A, et al.
Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323.
Eur J Hum Genet. 2005.
PMID: 15536479
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