Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T Gabbett, Louanne Hudgins, Jane A Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O M Wilkie

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27 Citations (Scopus)

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Medicine & Life Sciences