Germline UBA1 variant with somatic amplification in a woman with inflammatory diseases and myelodysplastic syndrome Journal Article

  

Authors:	Creignou, M.; Sirenko, M.; Moura, P. L.; Mortera-Blanco, T.; Dimitriou, M.; Sander, B.; Domenico, D.; Arango Ossa, J. E.; Tesi, B.; Beck, D. B.; Woll, P.; Jacobsen, S. E. W.; Papaemmanuil, E.; Bernard, E.; Hellström-Lindberg, E.
Article Title:	Germline UBA1 variant with somatic amplification in a woman with inflammatory diseases and myelodysplastic syndrome
Keywords:	single nucleotide polymorphism; case report; genetic variability; myelodysplastic syndrome; x chromosome; bone marrow cell; inflammatory disease; genotyping; copy number variation; human; female; article; somatosensory amplification
Journal Title:	Annals of Internal Medicine
Volume:	178
Issue:	2
ISSN:	0003-4819
Publisher:	American College of Physicians
Date Published:	2025-02-01
Start Page:	300
End Page:	304
Language:	English
DOI:	10.7326/l24-0125
PUBMED:	39832370
PROVIDER:	scopus
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85219362663&doi=10.7326%2fL24-0125&partnerID=40&md5=779acab29888323257ab76107a307bc7
Notes:	Article -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/223680