A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
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Nizon M, et al. Among authors: delezoide al.
Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.
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PMID: 26701315
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