Publications:

Insights Into the Emerging Role of Baf53b in Autism Spectrum Disorder.

Frontiers In Molecular Neuroscience

Rowland, Megan E ME; Jajarmi, Jana M JM; Osborne, Tess S M TSM; Ciernia, Annie Vogel AV

Publication Date: 2022

Variant appearance in text: BRG1: 1177G>A

PubMed Link: 35185468

Variant Present in the following documents:

• Main text
• fnmol-15-805158.pdf

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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wenderski, Wendy W; Wang, Lu L; Krokhotin, Andrey A; Walsh, Jessica J JJ; Li, Hongjie H; Shoji, Hirotaka H; Ghosh, Shereen S; George, Renee D RD; Miller, Erik L EL; Elias, Laura L; Gillespie, Mark A MA; Son, Esther Y EY; Staahl, Brett T BT; Baek, Seung Tae ST; Stanley, Valentina V; Moncada, Cynthia C; Shipony, Zohar Z; Linker, Sara B SB; Marchetto, Maria C N MCN; Gage, Fred H FH; Chen, Dillon D; Sultan, Tipu T; Zaki, Maha S MS; Ranish, Jeffrey A JA; Miyakawa, Tsuyoshi T; Luo, Liqun L; Malenka, Robert C RC; Crabtree, Gerald R GR; Gleeson, Joseph G JG

Publication Date: 2020-05-05

Variant appearance in text: SMARCA4: 1177G>A

PubMed Link: 32312822

Variant Present in the following documents:

• pnas.201908238.pdf

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