Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23970
Abstract: ACTB encodes β‐cytoplasmic actin, an essential component of the cytoskeleton. Based on chromosome 7p22.1 deletions that include the ACTB locus and on rare truncating ACTB variants, a phenotype resulting from ACTB haploinsufficiency was recently proposed.… read more here.
Keywords: loss function; function variants; actb loss; putative actb ... See more keywords