| 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 |
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)
2/92064https://publications.goettingen-research-online.de/handle/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