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1181por Zhe Zhang, Yueli Zheng, Margo Petukh, Anthony Pegg, Yoshihiko Ikeguchi, Emil Alexov“..., thin habitus, hypotonia, and a nonspecific movement disorder. These disease-causing missense mutations...”
Publicado 2013
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1182por Anna E. Patrick, Eden M. Lyons, Lisa Ishii, Alan S. Boyd, Joseph M. Choi, Anna K. Dewan, Janet G. Markle“... the missense mutation M408T. Variants of unknown significance are common in genetic sequencing studies...”
Publicado 2021
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1183“... certain amount of cells are needed in order to obtain adequate protein or messenger ribonucleic acid...”
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1184por Irfan Ahmad, Agaristi Lamprokostopoulou, Soazig Le Guyon, Elena Streck, Melanie Barthel, Verena Peters, Wolf-Dieter Hardt, Ute Römling“... messenger c-di-GMP in S. typhimurium inhibited invasion and abolished induction of a pro-inflammatory immune...”
Publicado 2011
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1185“... considering that missenses and other forms of pathogenic changes were not included in our assessment. Among...”
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1186por J. A. Jaffey, N. S. Reading, O. Abdulmalik, R. Kreisler, G. Bullock, A. Wiest, N. A. Villani, T. Mhlanga-Mutangadura, G. S. Johnson, L. A. Cohn, N. Isaza, J. W. Harvey, U. Giger“... reported and two novel CYB5R3 missense variants were identified among the methemoglobinemic cohort and were...”
Publicado 2020
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1187por Swen Hülsmann, Amara Khan, Liya Hagos, Martin Hindermann, Torsten Nägel, Christian Dullin“... detected in the chamber: (1) the increase in the pressure due to heating and moistening of the air during...”
Publicado 2021
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1188por Yin Ding, Weiwei Zhao, Tao Zhang, Hao Qiang, Jianping Lu, Xin Su, Shuzhen Wen, Feng Xu, Mingchao Zhang, Haitao Zhang, Caihong Zeng, Zhihong Liu, Huimei Chen“...) and membranoproliferative glomerulonephritis type I (MPGN I), and identified the concomitant presence of three missense...”
Publicado 2017
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1189“... samples were used to detect the expression of GEF-H1. Results showed that both messenger RNA and protein...”
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1190por Yulin Sun, Yulin Sun, Lin Wan, Lin Wan, Huimin Yan, Huimin Yan, Zhichao Li, Zhichao Li, Guang Yang, Guang Yang, Guang Yang“... of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary...”
Publicado 2021
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1191“... to dietary iron manipulations. In Hjv‐/‐ mice, hepcidin messenger RNA correlated significantly with hepatic...”
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1192“...Yujing He,1 Na Wu,1,2 Wenshu Yu,1 Ling Li,1 Hong OuYang,1 Xinyan Liu,1 Meichen Qian,1 A Al-Mureish1...”
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1193por Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou“... pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L...”
Publicado 2017
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1194por Rosalind Fallaize, Andrew L. Carvalho-Wells, Audrey C. Tierney, Carmen Marin, Beata Kieć-Wilk, Aldona Dembińska-Kieć, Christian A. Drevon, Catherine DeFoort, José Lopez-Miranda, Ulf Risérus, Wim H. Saris, Ellen E. Blaak, Helen M. Roche, Julie A. Lovegrove“... interactions between the missense APOE polymorphisms and FA status on metabolic markers in MetS. Plasma FA...”
Publicado 2017
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1195por Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti“... and 5 intolerance scores for missense variants. This pipeline is also capable of assessing non-coding...”
Publicado 2018
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1196“... to the untranslated regions of messenger RNA (mRNA). MicroRNA-148a (miR-148a) is expressed at low levels in breast...”
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1197por Ana Victoria Marco Hernández, Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez, Francisco Martinez“.... Most patients (11/12) had missense variants. Patients in whom the variants were located...”
Publicado 2021
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1198por Deville S, Hadiwikarta WW, Smisdom N, Wathiong B, Ameloot M, Nelissen I, Hooyberghs J“... Inge Nelissen,1 Jef Hooyberghs1,3 1VITO, Flemish Institute for Technological Research, Mol, Belgium; 2...”
Publicado 2017
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1199“... signaling messengers, including pro-inflammatory cytokines might also be involved. Accordingly, the present...”
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1200por Kristen Park, Katelyn J. Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz, Jeffrey K. Moore“... patients exhibiting brain malformations characteristic of tubulinopathies and heterozygous T178M missense...”
Publicado 2021
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