| Property | Value |
|---|
| Working Groups |  RG Wollnik |
| Subproject | RA1.1 |
| Open Access |  Yes |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  31821646 |
| DOI |  10.1002/humu.23964 |
| Publication Year | 2019 |
| Title | The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype  |
| Journal | Human Mutation |
| ISSN | 1059-7794 |
| eISSN | 1098-1004 |
| URL | https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23964 |
| Pages | 591-599 |
| Issue | 3 |
| Volume | 41 |
| Journal Abbreviation | Hum Mutat |
| Authors | Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J |
| First Author | Yigit G |
| Last Author | Altmüller J |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
onlineli....23964https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23964
Article fulltext
ENST00000418115https://www.ensembl.org/Multi/Search/Results?q=ENST00000418115
Ensembl identifier (ENST00000418115)
gro-2/92064http://resolver.sub.uni-goettingen.de/purl?gro-2/92064
GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI taxonomy (human, Homo sapiens)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID identifier (Bernd Wollnik)
017kgtg39https://ror.org/017kgtg39
ROR identifier (017kgtg39, Fukuoka Children's Hospital and Medical Center for Infectious Diseases)
031t5w623https://ror.org/031t5w623
ROR identifier (031t5w623, German Centre for Cardiovascular Research)
05xy1nn52https://ror.org/05xy1nn52
ROR identifier (05xy1nn52, Multiscale Bioimaging)
048fyec77https://ror.org/048fyec77
ROR identifier (048fyec77, Murdoch Children's Research Institute)
05mxhda18https://ror.org/05mxhda18
ROR identifier (05mxhda18, University Hospital Cologne)
013czdx64https://ror.org/013czdx64
ROR identifier (013czdx64, University Hospital Heidelberg)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774
ROR identifier (00rcxh774, University of Cologne)
01ej9dk98https://ror.org/01ej9dk98
ROR identifier (01ej9dk98, University of Melbourne)
0457zbj98https://ror.org/0457zbj98
ROR identifier (0457zbj98, University of Oklahoma Health Sciences Center)
0135d1r83https://ror.org/0135d1r83
ROR identifier (0135d1r83, Yokohama City University)
CVCL_0063https://scicrunch.org/resolver/CVCL_0063
SciCrunch identifier (RRID:CVCL_0063, HEK293T)
SCR_001591https://scicrunch.org/resolver/SCR_001591
SciCrunch identifier (RRID:SCR_001591, Clustal Omega)
SCR_000670https://scicrunch.org/resolver/SCR_000670
SciCrunch identifier (RRID:SCR_000670, DeNovoGear)
SCR_010777https://scicrunch.org/resolver/SCR_010777
SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_013189https://scicrunch.org/resolver/SCR_013189
SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_000305https://scicrunch.org/resolver/SCR_000305
SciCrunch identifier (RRID:SCR_000305, PyMOL)
SCR_012813https://scicrunch.org/resolver/SCR_012813
SciCrunch identifier (RRID:SCR_012813, SIFT)
mbexc.de...otype/https://mbexc.de/the-recurrent-postzygotic-pathogenic-variant-p-glu47lys-in-rhoa-causes-a-novel-recognizable-neuroectodermal-phenotype/
Website entry (mbexc.de)
Q91845577https://www.wikidata.org/wiki/Q91845577
Wikidata ID
