Association of clinical severity with FANCB variant type in Fanconi anemia.
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood.2019003249
Abstract: Fanconi anemia (FA) is the most common genetic cause of bone marrow failure, and is caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X-linked. We describe a cohort… read more here.
Keywords: monoubiquitination; fancb; fanconi anemia; severity ... See more keywords