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The COL7A1 mutation database.
Hum Mutat. 2012 Feb;33(2):327-31. doi: 10.1002/humu.21651. Epub 2011 Dec 20.
Hum Mutat. 2012.
PMID: 22058051
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T; NBS CF working group.
Sobczyńska-Tomaszewska A, et al.
Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15.
Eur J Hum Genet. 2013.
PMID: 22892530
Free PMC article.
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