A novel NONO variant that causes developmental delay and cardiac phenotypes

The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three proteins: SFPQ, PSPC1, and NONO. Hemizygous loss-of-function (LoF) variants in NONO cause a developmental delay with several complications (e.g., distincti...

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Detalles Bibliográficos
Autores principales: Itai, Toshiyuki, Sugie, Atsushi, Nitta, Yohei, Maki, Ryuto, Suzuki, Takashi, Shinkai, Yoichi, Watanabe, Yoshihiro, Nakano, Yusuke, Ichikawa, Kazushi, Okamoto, Nobuhiko, Utsuno, Yasuhiro, Koshimizu, Eriko, Fujita, Atsushi, Hamanaka, Kohei, Uchiyama, Yuri, Tsuchida, Naomi, Miyake, Noriko, Misawa, Kazuharu, Mizuguchi, Takeshi, Miyatake, Satoko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849200/
https://www.ncbi.nlm.nih.gov/pubmed/36653413
http://dx.doi.org/10.1038/s41598-023-27770-6

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