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Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".

Licia LugliMarzia PollazzonStefania BigoniStefano Giuseppe CaraffiAlessandra FerliniLorenzo FerriAmelia MorroneOlga CalabreseLorenzo IughettiLivia GaravelliAlberto Berardi
Published in: American journal of medical genetics. Part A (2021)
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