A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia

Diamond–Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagn...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: Aspesi, Anna, Betti, Marta, Sculco, Marika, Actis, Chiara, Olgasi, Cristina, Wlodarski, Marcin W., Vlachos, Adrianna, Lipton, Jeffrey M., Ramenghi, Ugo, Santoro, Claudio, Follenzi, Antonia, Ellis, Steven R., Dianzani, Irma
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6055729/
https://ncbi.nlm.nih.gov/pubmed/29766597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23551
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