View publication

↩ Back to all publications
Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 32212377
DOIDOI 10.1002/ajmg.a.61570
Publication Year2020
TitleHuman RAD50 deficiency: Confirmation of a distinctive phenotype Wikidata
JournalAmerican Journal of Medical Genetics Part A
ISSN1552-4825
eISSN1552-4833
URL http://dx.doi.org/10.1002/ajmg.a.61570
Pages1378-1386
Issue6
Volume182
Journal AbbreviationAm J Med Genet A
AuthorsRagamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS
First AuthorRagamin A
Last AuthorMancini GMS
ScholiaScholia Wikidata-based representation at Scholia

 External Resources

 onlineli....61570  Article fulltext

 gro-2/82230  GRO.publications identifier

 9606  NCBI taxonomy (human, Homo sapiens)

 208900  OMIM identifier (208900, AT)

 604391  OMIM identifier (604391, ATLD1)

 251260  OMIM identifier (251260, Nijmegen breakage syndrome; NBS)

 613078  OMIM identifier (613078, Nijmegen breakage syndrome-like disorder; NBSLD)

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

 018906e22  ROR identifier (018906e22, Erasmus MC)

 00cfam450  ROR identifier (00cfam450, Helmholtz Zentrum München)

 00f2yqf98  ROR identifier (00f2yqf98, Medizinische Hochschule Hannover)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 02kkvpp62  ROR identifier (02kkvpp62, Technical University of Munich)

 05mxhda18  University Hospital Cologne

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

 mbexc.de...otype/  Website entry (mbexc.de)

 Q90650843  Wikidata ID

Linked Antibodies

PIDAGTypeAntigen symbolAntibody Registry IDName
primary-0385primaryACTBAB_476744Monoclonal Anti-β-Actin antibody
primary-0409primaryRad50AB_2176935Anti-Rad50 antibody
primary-0410primaryMRE11AB_372398Mre11 antibody
primary-0411primaryNBNAB_10078050NBS1 Antibody
primary-0412primaryCHEK2AB_330057Phospho-Chk2 (Ser19) Antibody
primary-0413primaryTRIM28AB_2765282Phospho KAP-1 (S824) Recombinant Monoclonal Antibody [BL-246-7B5]