Litcius/Paper detail

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences

Mamiko Yamada, Yohei Nitta, Tomoko Uehara, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Masaru Tamura, Shinya Ayabe, Atsushi Yoshiki, Akiteru Maeno, Yumiko Saga, Tamio Furuse, Ikuko Yamada, Nobuhiko Okamoto, Kenjiro Kosaki, Atsushi Sugie

2023European Journal of Medical Genetics22 citationsDOI

Topics & Concepts

BiologyGeneticsRNA Helicase AMutantEctopic expressionGeneHelicasePhenotypeWild typeRNAGenetics and Neurodevelopmental DisordersRNA modifications and cancerRNA Research and Splicing