View publication

↩ Back to all publications
Publication
PropertyValue
Working Groups RG Hasenfuß, RG Wollnik
SubprojectRA1.1, RA1.2
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
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)

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

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

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

 381  Published Data Registry entry (CRC 1002)

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

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

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

 SCR_001591  SciCrunch identifier (RRID:SCR_001591, Clustal Omega)

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

 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)

 mbexc.de...nesis/  Website entry (mbexc.de)

 Q96232905  Wikidata ID

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

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

 00f2yqf98  ROR identifier (00f2yqf98, Medizinische Hochschule Hannover)

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

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