Published in
Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 12(25), p. 1324-1334, 2017
DOI: 10.1038/s41431-017-0031-0
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A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity
Journal article published in 2017 by
Rafiullah Rafiullah,
Alyssa B. Long,
Anna A. Ivanova,
Hazrat Ali,
Simone Berkel,
Ghulam Mustafa 
,
Nagarajan Paramasivam,
Matthias Schlesner ,
Stefan Wiemann,
Rebecca C. Wade ,
Eugen Bolthauser,
Martin Blum,
Richard A. Kahn,
Tamara Caspary,
Gudrun A. Rappold
,
Nagarajan Paramasivam,
Matthias Schlesner ,
Stefan Wiemann,
Rebecca C. Wade ,
Eugen Bolthauser,
Martin Blum,
Richard A. Kahn,
Tamara Caspary,
Gudrun A. Rappold
This paper is made freely available by the publisher.
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