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Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

Anne Kosfeld; Martin Kreuzer; Christoph Daniel; Frank Brand; Anne-Kathrin Schäfer; Alexandra Chadt; Anna-Carina Weiss; Vera Riehmer; Cécile Jeanpierre; Michael Klintschar; Jan Hinrich Bräsen; Kerstin Amann; Lars Pape; Andreas Kispert; Hadi Al-Hasani; Dieter Haffner; Ruthild G. Weber
Human Genetics · Vol. 135, Issue 1 · pp. 69-87 · 2016

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2016-01-01
Publication Year2016
Volume135
Issue1
Pages69-87
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-015-1610-1

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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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