CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
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Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18.
Eur J Hum Genet. 2018.
PMID: 29255276
Free PMC article.