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od Vieira, Daniela Koeller Rodrigues, Attianezi, Margareth, Esposito, Ana Carolina, Barth, Anneliese, Sequeira, Cecília, Krause, Nathália, Oliveira, Vivian, Lucidi, Alexandre, Serao, Cassio, Llerena, Juan C.
izdano v J Community Genet (2014)

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izdano v Orphanet J Rare Dis (2016)