| Property |
Value |
| Working Groups |
RG Hasenfuß, 
RG Wollnik |
| Subproject |
RA1.1, RA1.2 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
32514796 |
| DOI |
10.1007/s00439-020-02188-6 |
| Publication Year |
2020 |
| Title |
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis |
| Journal |
Human Genetics |
| ISSN |
0340-6717 |
| eISSN |
1432-1203 |
| URL |
http://dx.doi.org/10.1007/s00439-020-02188-6 |
| Pages |
1443-1454 |
| Issue |
11 |
| Volume |
139 |
| Journal Abbreviation |
Hum Genet |
| Authors |
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B |
| First Author |
Ganapathi M |
| Last Author |
Wollnik B |
External Resources
link.spr...-6.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-020-02188-6.pdf Article fulltext
2/81850http://resolver.sub.uni-goettingen.de/purl?2/81850 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0000-0001-9120-1382https://orcid.org/0000-0001-9120-1382 ORCID identifier (Lukas Cyganek)
0000-0002-5942-361Xhttps://orcid.org/0000-0002-5942-361X ORCID identifier (Gerd Hasenfuß)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
381https://sfb1002.med.uni-goettingen.de/production/literature/publications/381 Published Data Registry entry (CRC 1002)
1/797https://mbexc.uni-goettingen.de/archive/1/797 Research Data Archive (supplemental material)
01esghr10https://ror.org/01esghr10 ROR identifier (01esghr10, Columbia University Irving Medical Center)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
058thx797https://ror.org/058thx797 ROR identifier (058thx797, Hospital Universitario Virgen de la Arrixaca)
00f2yqf98https://ror.org/00f2yqf98 ROR identifier (00f2yqf98, Medizinische Hochschule Hannover)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
002x1sg85https://ror.org/002x1sg85 ROR identifier (002x1sg85, Research Institute Hospital 12 de Octubre)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
SCR_001591https://scicrunch.org/resolver/SCR_001591 SciCrunch identifier (RRID:SCR_001591, Clustal Omega)
SCR_018393https://scicrunch.org/resolver/SCR_018393 SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)
SCR_002344https://scicrunch.org/resolver/SCR_002344 SciCrunch identifier (RRID:SCR_002344, Ensembl)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_002963https://scicrunch.org/resolver/SCR_002963 SciCrunch identifier (RRID:SCR_002963, NEST)
SCR_011859https://scicrunch.org/resolver/SCR_011859 SciCrunch identifier (RRID:SCR_011859, NextGENe)
SCR_006437https://scicrunch.org/resolver/SCR_006437 SciCrunch identifier (RRID:SCR_006437, OMIM)
SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
SCR_005026https://scicrunch.org/resolver/SCR_005026 SciCrunch identifier (RRID:SCR_005026, SMART)
SCR_005780https://scicrunch.org/resolver/SCR_005780 SciCrunch identifier (RRID:SCR_005780, UCSC Genome Browser)
SCR_002380https://scicrunch.org/resolver/SCR_002380 SciCrunch identifier (RRID:SCR_002380, Universal Protein Resource)
media.sp...M.docxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs00439-020-02188-6/MediaObjects/439_2020_2188_MOESM1_ESM.docx Supplemental material
media.sp...M.docxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs00439-020-02188-6/MediaObjects/439_2020_2188_MOESM2_ESM.docx Supplemental material
mbexc.de...nesis/https://mbexc.de/bi-allelic-missense-disease-causing-variants-in-rpl3l-associate-neonatal-dilated-cardiomyopathy-with-muscle-specific-ribosome-biogenesis/ Website entry (mbexc.de)
Q96232905https://www.wikidata.org/wiki/Q96232905 Wikidata ID