| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
RA1.1 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
33024317 |
| DOI |
10.1038/s41436-020-00979-w |
| Publication Year |
2020 |
| Title |
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia |
| Journal |
Genetics in Medicine |
| ISSN |
1098-3600 |
| eISSN |
1530-0366 |
| URL |
http://dx.doi.org/10.1038/s41436-020-00979-w |
| Journal Abbreviation |
Genet Med |
| Extra |
FOR 2800 |
| Authors |
Schröder 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 Author |
Schröder S |
| Last Author |
Brockmann K |
External Resources
nature.c...-w.pdfhttps://www.nature.com/articles/s41436-020-00979-w.pdf Article fulltext
2/83726https://publications.goettingen-research-online.de/handle/2/83726 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
109400https://www.omim.org/entry/109400 OMIM identifier (109400, BCNS)
617757https://www.omim.org/entry/617757 OMIM identifier (617757, JBTS32)
257550https://www.omim.org/entry/257550 OMIM identifier (257550, Ocular motor apraxia)
607035https://www.omim.org/entry/607035 OMIM identifier (607035, SUFU)
0000-0002-7515-8596https://orcid.org/0000-0002-7515-8596 ORCID identifier (Kathrin Brockmann)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
1/165https://mbexc.uni-goettingen.de/archive/1/165 Research Data Archive (supplemental material)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
03z3mg085https://ror.org/03z3mg085 ROR identifier (03z3mg085, Paracelsus Medical University)
03esvmb28https://ror.org/03esvmb28 ROR identifier (03esvmb28, University Children's Hospital Tübingen)
02met5w95https://ror.org/02met5w95 ROR identifier (02met5w95, Praxis für Humangenetik Tübingen)
03avbdx23https://ror.org/03avbdx23 ROR identifier (03avbdx23, Pius Hospital Oldenburg)
035vb3h42https://ror.org/035vb3h42 ROR identifier (035vb3h42, University Children's Hospital Zurich)
00f2yqf98https://ror.org/00f2yqf98 ROR identifier (00f2yqf98, Hannover Medical School)
024pk8k39https://ror.org/024pk8k39 ROR identifier (024pk8k39, Amalia Kinderziekenhuis)
SCR_014199https://scicrunch.org/resolver/SCR_014199 SciCrunch identifier (RRID:SCR_014199, Adobe Photoshop)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_001888https://scicrunch.org/resolver/SCR_001888 SciCrunch identifier (RRID:SCR_001888, HGMD)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41436-020-00979-w/MediaObjects/41436_2020_979_MOESM1_ESM.pdf Supplemental material
mbexc.de...raxia/https://mbexc.de/heterozygous-truncating-variants-in-sufu-cause-congenital-ocular-motor-apraxia/ Website entry (mbexc.de)
Q100465296https://www.wikidata.org/wiki/Q100465296 Wikidata ID
Linked Antibodies
| PID |
AG |
Type |
Antigen symbol |
Antibody Registry ID |
Name |
| primary-0258 |
|
primary |
TUBA4A |
AB_477585 |
Monoclonal Anti-Tubulin |
| primary-0259 |
|
primary |
SMO |
AB_882615 |
Anti-Smoothened antibody |