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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
Clin Genet. 2019 Dec;96(6):575-578. doi: 10.1111/cge.13626. Epub 2019 Aug 27.
Clin Genet. 2019.
PMID: 31432506
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G.
Morgan A, et al.
Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1.
Hum Mutat. 2019.
PMID: 31397523
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