Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

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OAIster

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Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J-H , Ge , Y-H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N , Burrage , L C , Plaud Gonzalez , J A , Parnes , M , Friedman , J , Isidor , B , Lefranc , J , Redon , S , Heron , D , Mignot , C , Keren , B , Fradin , M , Dubourg , C , Mercier , S , Besnard , T , Cogne , B , Deb , W , Rivier , C , Milani , D , Bedeschi , M F , Di Napoli , C , Grilli , F , Marchisio , P , Koudijs , S , Veenma , D , Argilli , E , Lynch , S A , Au , P Y B , Ayala Valenzuela , F E , Brown , C , Masser-Frye , D , Jones , M , Patron Romero , L , Li , W L , Thorpe , E , Hecher , L , Johannsen , J , Denecke , J , McNiven , V , Szuto , A , Wakeling , E , Cruz , V , Sency , V , Wang , H , Piard , J , Kortüm , F , Herget , T , Bierhals , T , Condell , A , Zeev , B B , Kaur , S , Christodoulou , J , Piton , A , Zweier , C , Kraus , C , Micalizzi , A , Trivisano , M , Specchio , N , Lesca , G , Møller , R S , Tümer , Z , Musgaard , M , Gerard , B , Lemke , J R , Shi , Y S & Kristensen , A S 2024 , ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ' , Brain , vol. 147 , no. 5 , pp. 1837-1855 .

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application/pdf, English

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Electronic Resource

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edsoai.on1478334418

Document Type :

Electronic Resource