| 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 |
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)
2/70825https://publications.goettingen-research-online.de/handle/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XM_005266181.4https://www.ncbi.nlm.nih.gov/nuccore/XM_005266181.4 NCBI nucleotide (XM_005266181.4, This sequence has been replaced by NM_001382741)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)
01rdrb571https://ror.org/01rdrb571 ROR identifier (01rdrb571, Philipps University of Marburg)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
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 |