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6. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Duncan AR; Polovitskaya MM; Gaitán-Peñas H; Bertelli S; VanNoy GE; Grant PE; O'Donnell-Luria A; Valivullah Z; Lovgren AK; England EM; Agolini E; Madden JA; Schmitz-Abe K; Kritzer A; Hawley P; Novelli A; Alfieri P; Colafati GS; Wieczorek D; Platzer K; Luppe J; Koch-Hogrebe M; Abou Jamra R; Neira-Fresneda J; Lehman A; Boerkoel CF; Seath K; Clarke L; ; van Ierland Y; Argilli E; Sherr EH; Maiorana A; Diel T; Hempel M; Bierhals T; Estévez R; Jentsch TJ; Pusch M; Agrawal PB Am J Hum Genet; 2021 Aug; 108(8):1450-1465. PubMed ID: 34186028 [TBL] [Abstract][Full Text] [Related]
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