| Property | Value |
|---|
| Working Groups |  RG Wollnik |
| Subproject | RA1.1, RA1.2 |
| Open Access |  Yes |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  32424618 |
| DOI |  10.1007/s00439-020-02175-x |
| Publication Year | 2020 |
| Title | De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome  |
| Journal | Human Genetics |
| ISSN | 0340-6717 |
| eISSN | 1432-1203 |
| URL | http://dx.doi.org/10.1007/s00439-020-02175-x |
| Pages | 1363-1379 |
| Issue | 11 |
| Volume | 139 |
| Journal Abbreviation | Hum Genet |
| Extra | Ensembl: ENST00000542061.2 |
| Authors | Ufartes 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 Author | Ufartes R |
| Last Author | Pauli S |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
link.spr...-x.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-020-02175-x.pdf
Article fulltext
ENST00000542061.2https://www.ensembl.org/Multi/Search/Results?q=ENST00000542061.2
Ensembl identifier (ENST00000542061.2)
gro-2/70825http://resolver.sub.uni-goettingen.de/purl?gro-2/70825
GRO.publications identifier
8355https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=8355
NCBI taxonomy (clawed frog, Xenopus laevis)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI taxonomy (human, Homo sapiens)
NM_015154.1https://www.ncbi.nlm.nih.gov/nuccore/NM_015154.1
NCBI nucleotide (NM_015154.1, This sequence has been updated: NM_015154.3)
XM_005266181.4https://www.ncbi.nlm.nih.gov/nuccore/XM_005266181.4
NCBI nucleotide (XM_005266181.4, This sequence has been replaced by NM_001382741)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID identifier (Bernd Wollnik)
05xy1nn52https://ror.org/05xy1nn52
ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
CVCL_0045https://scicrunch.org/resolver/CVCL_0045
SciCrunch identifier (RRID:CVCL_0045, HEK293)
CVCL_0030https://scicrunch.org/resolver/CVCL_0030
SciCrunch identifier (RRID:CVCL_0030, HeLa)
SCR_015058https://scicrunch.org/resolver/SCR_015058
SciCrunch identifier (RRID:SCR_015058, bcl2fastq)
SCR_014583https://scicrunch.org/resolver/SCR_014583
SciCrunch identifier (RRID:SCR_014583, FastQC)
SCR_012919https://scicrunch.org/resolver/SCR_012919
SciCrunch identifier (RRID:SCR_012919, featureCounts)
SCR_002285https://scicrunch.org/resolver/SCR_002285
SciCrunch identifier (RRID:SCR_002285, Fiji)
SCR_010233https://scicrunch.org/resolver/SCR_010233
SciCrunch identifier (RRID:SCR_010233, Illumina)
SCR_003070https://scicrunch.org/resolver/SCR_003070
SciCrunch identifier (RRID:SCR_003070, ImageJ)
SCR_011793https://scicrunch.org/resolver/SCR_011793
SciCrunch identifier (RRID:SCR_011793, Integrative Genomics Viewer)
SCR_015899https://scicrunch.org/resolver/SCR_015899
SciCrunch identifier (RRID:SCR_015899, STAR)
mbexc.de...ome-2/https://mbexc.de/de-novo-mutations-in-fbrsl1-cause-a-novel-recognizable-malformation-and-intellectual-disability-syndrome-2/
Website entry (mbexc.de)
Q95333319https://www.wikidata.org/wiki/Q95333319
Wikidata ID
Linked Antibodies
| PID | AG | Type | Antigen symbol | Antibody Registry ID | Name |
|---|
| primary-0401 | | primary | HA | AB_390919 | Anti-HA High Affinity |
| primary-0402 | | primary | FBRSL1 | AB_2680930 | Anti-FBRSL1 antibody |
| primary-0403 | | primary | FBRSL1 | | ANTI-FBRSL1 (C-TERM) antibody |
| primary-0404 | | primary | COL2A1 | AB_528165 | Anti- collagen type II Antibody |
| primary-0405 | | primary | NCAM1 | AB_528389 | Anti-NCAM Antibody |
| secondary-0406 | | secondary | | AB_2534073 | Goat anti-Mouse IgG (H+L) Cross-Adsorbed Secondary Antibody, Alexa Fluor 594 |
