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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

✍ Scribed by Marconi, Caterina; Brunamonti Binello, Paolo; Badiali, Giovanni; Caci, Emanuela; Cusano, Roberto; Garibaldi, Joseph; Pippucci, Tommaso; Merlini, Alberto; Marchetti, Claudio; Rhoden, Kerry J; Galietta, Luis J V; Lalatta, Faustina; Balbi, Paolo; Seri, Marco

Book ID: 120088019
Publisher: Nature Publishing Group
Year: 2012
Tongue: English
Weight: 892 KB
Volume: 21
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2012.224

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