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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectRA1.1
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 33024317
DOIDOI 10.1038/s41436-020-00979-w
Publication Year2020
TitleHeterozygous truncating variants in SUFU cause congenital ocular motor apraxia Wikidata
JournalGenetics in Medicine
ISSN1098-3600
eISSN1530-0366
URL http://dx.doi.org/10.1038/s41436-020-00979-w
Journal AbbreviationGenet Med
ExtraFOR 2800
AuthorsSchröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K
First AuthorSchröder S
Last AuthorBrockmann K
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 nature.c...-w.pdf  Article fulltext

 gro-2/83726  GRO.publications identifier

 9606  NCBI taxonomy (human, Homo sapiens)

 109400  OMIM identifier (109400, BCNS)

 617757  OMIM identifier (617757, JBTS32)

 257550  OMIM identifier (257550, Ocular motor apraxia)

 607035  OMIM identifier (607035, SUFU)

 0000-0002-7515-8596  ORCID identifier (Kathrin Brockmann)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 1/165  Research Data Archive (supplemental material)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 00rcxh774  ROR identifier (00rcxh774, University of Cologne)

 03z3mg085  ROR identifier (03z3mg085, Paracelsus Medical University)

 03esvmb28  ROR identifier (03esvmb28, University Children's Hospital Tübingen)

 02met5w95  ROR identifier (02met5w95, Praxis für Humangenetik Tübingen)

 03avbdx23  ROR identifier (03avbdx23, Pius Hospital Oldenburg)

 035vb3h42  ROR identifier (035vb3h42, University Children's Hospital Zurich)

 00f2yqf98  ROR identifier (00f2yqf98, Hannover Medical School)

 024pk8k39  ROR identifier (024pk8k39, Amalia Kinderziekenhuis)

 SCR_014199  SciCrunch identifier (RRID:SCR_014199, Adobe Photoshop)

 SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 static-c...SM.pdf  Supplemental material

 mbexc.de...raxia/  Website entry (mbexc.de)

 Q100465296  Wikidata ID

Linked Antibodies

PIDAGTypeAntigen symbolAntibody Registry IDName
primary-0258primaryTUBA4AAB_477585Monoclonal Anti-Tubulin
primary-0259primarySMOAB_882615Anti-Smoothened antibody