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Refinado por: autor: Penney, Samantha remover assunto: Humans remover assunto: Mutation remover
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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E ; Gonzaga-Jauregui, Claudia ; Tannenbaum, Rebecca ; Penney, Samantha ; Lupski, James R ; Hopkin, Robert J ; Sutton, V. Reid

European Journal of Medical Genetics, July 2014, Vol.57(7), pp.339-344 [Periódico revisado por pares]

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani

PLoS genetics, March 2014, Vol.10(3), pp.e1004258 [Periódico revisado por pares]

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