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Published in Npj genomic medicine (06.08.2018)
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.
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Published in Human mutation (01.02.2016)
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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
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Published in Molecular genetics & genomic medicine (01.01.2017)
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