| 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 |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
onlineli....61570https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.61570
Article fulltext
gro-2/82230http://resolver.sub.uni-goettingen.de/purl?gro-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)
05xy1nn52https://ror.org/05xy1nn52
ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
018906e22https://ror.org/018906e22
ROR identifier (018906e22, Erasmus MC)
00f2yqf98https://ror.org/00f2yqf98
ROR identifier (00f2yqf98, Medizinische Hochschule Hannover)
05mxhda18https://ror.org/05mxhda18
University Hospital Cologne
00cfam450https://ror.org/00cfam450
ROR identifier (00cfam450, Helmholtz Zentrum München)
02kkvpp62https://ror.org/02kkvpp62
ROR identifier (02kkvpp62, Technical University of Munich)
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] |
