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Publication
PropertyValue
Working Groups AG Cyganek, AG Hasenfuß, AG Wollnik
SubprojectD02
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedUnknown
PMIDPubMed ID 32514796
DOIDOI 10.1007/s00439-020-02188-6
Publication Year2020
TitleBi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis Wikidata
JournalHuman Genetics
ISSN0340-6717
eISSN1432-1203
URL http://dx.doi.org/10.1007/s00439-020-02188-6
Pages1443-1454
Issue11
Volume139
Journal AbbreviationHum Genet
AuthorsGanapathi 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 AuthorGanapathi M
Last AuthorWollnik B
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 link.spr...-6.pdf  Article fulltext

 gro-2/81850  GRO.publications identifier

 9606  NCBI taxonomy (human, Homo sapiens)

 0000-0003-2834-0843  ORCID identifier (Mythily Ganapathi)

 0000-0002-9816-2109  ORCID identifier (Loukas Argyriou)

 0000-0001-6250-7745  ORCID identifier (Francisco Martínez-Azorín)

 0000-0003-1880-291X  ORCID identifier (Bernd Auber)

 0000-0002-0169-998X  ORCID identifier (Holger Thiele)

 0000-0001-9120-1382  ORCID identifier (Lukas Cyganek)

 0000-0003-1352-1748  ORCID identifier (Maria Sabater-Molina)

 0000-0001-9053-5380  ORCID identifier (Juan Cabezas-Herrera)

 0000-0001-7113-3634  ORCID identifier (Markus Siegelin)

 0000-0002-5942-361X  ORCID identifier (Gerd Hasenfuss)

 0000-0002-1835-1031  ORCID identifier (Barry Honig)

 0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 174  Published Data Registry entry (MBExC)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 01esghr10  ROR identifier (01esghr10, Columbia University Medical Center)

 00f2yqf98  ROR identifier (00f2yqf98, Hannover Medical School)

 058thx797  ROR identifier (058thx797, Hospital Universitario Virgen de la Arrixaca)

 031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 002x1sg85  ROR identifier (002x1sg85, Research Institute Hospital 12 de Octubre)

 01y9bpm73  ROR identifier (01y9bpm73, University of Göttingen)

 00rcxh774  ROR identifier (00rcxh774, University of Cologne)

 SCR_018393  SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)

 SCR_001591  SciCrunch identifier (RRID:SCR_001591, Clustal Omega)

 SCR_002344  SciCrunch identifier (RRID:SCR_002344, Ensembl)

 SCR_014964  SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)

 SCR_010777  SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_002963  SciCrunch identifier (RRID:SCR_002963, NEST)

 SCR_011859  SciCrunch identifier (RRID:SCR_011859, NextGENe)

 SCR_006437  SciCrunch identifier (RRID:SCR_006437, OMIM)

 SCR_013189  SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 SCR_005026  SciCrunch identifier (RRID:SCR_005026, SMART)

 SCR_005780  SciCrunch identifier (RRID:SCR_005780, UCSC Genome Browser)

 SCR_002380  SciCrunch identifier (RRID:SCR_002380, Universal Protein Resource)

 Q96232905  Wikidata ID