Publications:

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Nature Communications

Fasano, Giulia G; Muto, Valentina V; Radio, Francesca Clementina FC; Venditti, Martina M; Mosaddeghzadeh, Niloufar N; Coppola, Simona S; Paradisi, Graziamaria G; Zara, Erika E; Bazgir, Farhad F; Ziegler, Alban A; Chillemi, Giovanni G; Bertuccini, Lucia L; Tinari, Antonella A; Vetro, Annalisa A; Pantaleoni, Francesca F; Pizzi, Simone S; Conti, Libenzio Adrian LA; Petrini, Stefania S; Bruselles, Alessandro A; Prandi, Ingrid Guarnetti IG; Mancini, Cecilia C; Chandramouli, Balasubramanian B; Barth, Magalie M; Bris, Céline C; Milani, Donatella D; Selicorni, Angelo A; Macchiaiolo, Marina M; Gonfiantini, Michaela V MV; Bartuli, Andrea A; Mariani, Riccardo R; Curry, Cynthia J CJ; Guerrini, Renzo R; Slavotinek, Anne A; Iascone, Maria M; Dallapiccola, Bruno B; Ahmadian, Mohammad Reza MR; Lauri, Antonella A; Tartaglia, Marco M

Publication Date: 2022-11-11

Variant appearance in text: TMEM131: 878C>T; Ala293Val

PubMed Link: 36369169

Variant Present in the following documents:

• 41467_2022_34354_MOESM1_ESM.pdf

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