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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Seth I. Berger; Carla Ciccone; Karen L. Simon; May Christine Malicdan; Thierry Vilboux; Charles Billington; Roxanne Fischer; Wendy J. Introne; Andrea Gropman; Jan K. Blancato; James C. Mullikin; William A. Gahl; Marjan Huizing; Ann C. M. Smith
Human Genetics · Vol. 136, Issue 4 · pp. 409-420 · 2017
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Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2017-04-01
Publication Year2017
Volume136
Issue4
Pages409-420
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-017-1767-x

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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