| 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 |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
link.spr...-6.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-020-02188-6.pdf
Article fulltext
gro-2/81850http://resolver.sub.uni-goettingen.de/purl?gro-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)
031t5w623https://ror.org/031t5w623
ROR identifier (031t5w623, German Centre for Cardiovascular Research)
05xy1nn52https://ror.org/05xy1nn52
ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
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)
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
