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  1. 1
    Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

    Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease by Margarita L. Martinez-Fierro, Griselda A. Cabral-Pacheco, Idalia Garza-Veloz, Jesus Acuña-Quiñones, Laura E. Martinez-de-Villarreal, Marisol Ibarra-Ramirez, Joke Beuten, Samantha E. Sanchez-Guerrero, Laura Villarreal-Martinez, Ivan Delgado-Enciso, Iram P. Rodriguez-Sanchez, Vania Z. Zuñiga-Ramirez, Edith Cardenas-Vargas, Viktor Romero-Diaz

    Published 2021-05-01
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    Article
  2. 2
    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. by Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

    Published 2014-03-01
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