A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1107930
Abstract: Rare genetic disorders represent some of the most severe and life-limiting conditions that constitute a considerable burden on global healthcare systems and societies. Most individuals affected by rare disorders remain undiagnosed, highlighting the unmet need… read more here.
Keywords: disease; disease genes; phosphatase catalytic; rare disorders ... See more keywords