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: NRAS: Pro34Thr

PubMed Link: 36369169

Variant Present in the following documents:

• 41467_2022_34354_MOESM1_ESM.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: NRAS: 100C>A; P34T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population.

Biomed Research International

Gutiérrez-Castañeda, Luz D LD; Gamboa, Mauricio M; Nova, John A JA; Pulido, Leonardo L; Tovar-Parra, Jose D JD

Publication Date: 2020

Variant appearance in text: NRAS: Pro34Thr

PubMed Link: 32775409

Variant Present in the following documents:

• Main text

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