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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectRA1.1, RA1.2
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 32424618
DOIDOI 10.1007/s00439-020-02175-x
Publication Year2020
TitleDe novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome Wikidata
JournalHuman Genetics
ISSN0340-6717
eISSN1432-1203
URL http://dx.doi.org/10.1007/s00439-020-02175-x
Pages1363-1379
Issue11
Volume139
Journal AbbreviationHum Genet
ExtraEnsembl: ENST00000542061.2
AuthorsUfartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S
First AuthorUfartes R
Last AuthorPauli S
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 link.spr...-x.pdf  Article fulltext

 ENST00000542061.2  Ensembl identifier (ENST00000542061.2)

 gro-2/70825  GRO.publications identifier

 8355  NCBI taxonomy (clawed frog, Xenopus laevis)

 9606  NCBI taxonomy (human, Homo sapiens)

 NM_015154.1  NCBI nucleotide (NM_015154.1, This sequence has been updated: NM_015154.3)

 XM_005266181.4  NCBI nucleotide (XM_005266181.4, This sequence has been replaced by NM_001382741)

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

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

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

 01rdrb571  ROR identifier (01rdrb571, Philipps University of Marburg)

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

 CVCL_0045  SciCrunch identifier (RRID:CVCL_0045, HEK293)

 CVCL_0030  SciCrunch identifier (RRID:CVCL_0030, HeLa)

 SCR_015058  SciCrunch identifier (RRID:SCR_015058, bcl2fastq)

 SCR_014583  SciCrunch identifier (RRID:SCR_014583, FastQC)

 SCR_012919  SciCrunch identifier (RRID:SCR_012919, featureCounts)

 SCR_002285  SciCrunch identifier (RRID:SCR_002285, Fiji)

 SCR_010233  SciCrunch identifier (RRID:SCR_010233, Illumina)

 SCR_003070  SciCrunch identifier (RRID:SCR_003070, ImageJ)

 SCR_011793  SciCrunch identifier (RRID:SCR_011793, Integrative Genomics Viewer)

 SCR_015899  SciCrunch identifier (RRID:SCR_015899, STAR)

 mbexc.de...ome-2/  Website entry (mbexc.de)

 Q95333319  Wikidata ID

Linked Antibodies

PIDAGTypeAntigen symbolAntibody Registry IDName
primary-0401primaryHAAB_390919Anti-HA High Affinity
primary-0402primaryFBRSL1 AB_2680930Anti-FBRSL1 antibody
primary-0403primaryFBRSL1ANTI-FBRSL1 (C-TERM) antibody
primary-0404primaryCOL2A1AB_528165Anti- collagen type II Antibody
primary-0405primary NCAM1AB_528389Anti-NCAM Antibody
secondary-0406secondaryAB_2534073Goat anti-Mouse IgG (H+L) Cross-Adsorbed Secondary Antibody, Alexa Fluor 594