geleophysic dysplasia

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Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo, Pasquale;Sabatino, Valeria;Mithbaokar, Pratibha;Polishchuck, Elena;Law, Simon K;Magraner-Pa...
2019 molecular genetics and metabolism reports DOI: 10.1016/j.ymgmr.2019... 254 views

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