De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Autor: Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca E. Russell, Lee-kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Christine V. Malicdan, Michael F. Wangler
Rok vydání: 2023
Předmět:
Zdroj: Genetics in Medicine. :100833
ISSN: 1098-3600
Databáze: OpenAIRE