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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

Sandra Szczepanski; Muhammad Sajid Hussain; Ilknur Sur; Janine Altmüller; Holger Thiele; Uzma Abdullah; Syeda Seema Waseem; Abubakar Moawia; Gudrun Nürnberg; Angelika Anna Noegel; Shahid Mahmood Baig; Peter Nürnberg
Human Genetics · Vol. 135, Issue 2 · pp. 157-170 · 2016
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2016-02-01
Publication Year2016
Volume135
Issue2
Pages157-170
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-015-1619-5

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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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