| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
32212377 |
| DOI |
10.1002/ajmg.a.61570 |
| Publication Year |
2020 |
| Title |
Human RAD50 deficiency: Confirmation of a distinctive phenotype |
| Journal |
American Journal of Medical Genetics Part A |
| ISSN |
1552-4825 |
| eISSN |
1552-4833 |
| URL |
http://dx.doi.org/10.1002/ajmg.a.61570 |
| Pages |
1378-1386 |
| Issue |
6 |
| Volume |
182 |
| Journal Abbreviation |
Am J Med Genet A |
| Authors |
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS |
| First Author |
Ragamin A |
| Last Author |
Mancini GMS |
External Resources
onlineli....61570https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.61570 Article fulltext
2/82230https://publications.goettingen-research-online.de/handle/2/82230 GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
208900https://www.omim.org/entry/208900 OMIM identifier (208900, AT)
604391https://www.omim.org/entry/604391 OMIM identifier (604391, ATLD1)
251260https://www.omim.org/entry/251260 OMIM identifier (251260, Nijmegen breakage syndrome; NBS)
613078https://www.omim.org/entry/613078 OMIM identifier (613078, Nijmegen breakage syndrome-like disorder; NBSLD)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
018906e22https://ror.org/018906e22 ROR identifier (018906e22, Erasmus MC)
00cfam450https://ror.org/00cfam450 ROR identifier (00cfam450, Helmholtz Zentrum München)
00f2yqf98https://ror.org/00f2yqf98 ROR identifier (00f2yqf98, Medizinische Hochschule Hannover)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
02kkvpp62https://ror.org/02kkvpp62 ROR identifier (02kkvpp62, Technical University of Munich)
05mxhda18https://ror.org/05mxhda18 University Hospital Cologne
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
mbexc.de...otype/https://mbexc.de/human-rad50-deficiency-confirmation-of-a-distinctive-phenotype/ Website entry (mbexc.de)
Q90650843https://www.wikidata.org/wiki/Q90650843 Wikidata ID
Linked Antibodies
| PID |
AG |
Type |
Antigen symbol |
Antibody Registry ID |
Name |
| primary-0385 |
 |
primary |
ACTB |
AB_476744 |
Monoclonal Anti-β-Actin antibody |
| primary-0409 |
|
primary |
Rad50 |
AB_2176935 |
Anti-Rad50 antibody |
| primary-0410 |
|
primary |
MRE11 |
AB_372398 |
Mre11 antibody |
| primary-0411 |
|
primary |
NBN |
AB_10078050 |
NBS1 Antibody |
| primary-0412 |
|
primary |
CHEK2 |
AB_330057 |
Phospho-Chk2 (Ser19) Antibody |
| primary-0413 |
|
primary |
TRIM28 |
AB_2765282 |
Phospho KAP-1 (S824) Recombinant Monoclonal Antibody [BL-246-7B5] |