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 |
Scholia | Wikidata-based representation at Scholia |
External Resources
nature.c...-w.pdfhttps://www.nature.com/articles/s41436-020-00979-w.pdf
Article fulltext
gro-2/83726http://resolver.sub.uni-goettingen.de/purl?gro-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 |