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Point mutation

Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease

Vasundhara Dehiya, Jaya Thomas, Lee Sael

published 28 Sep 2018

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Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

published 17 Sep 2018

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The VAChTY49N mutation provides insecticide-resistance but perturbs evoked cholinergic neurotransmission in Drosophila

Samuel W. Vernon, Jim Goodchild, Richard A. Baines

published 11 Sep 2018

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Role of simple descriptors and applicability domain in predicting change in protein thermostability

Kenneth N. McGuinness, Weilan Pan, Robert P. Sheridan, Grant Murphy, Alejandro Crespo

published 07 Sep 2018

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900MHz ¹H-/¹³C-NMR analysis of 2-hydroxyglutarate and other brain metabolites in human brain tumor tissue extracts

Gregory Hyung Jin Park, Seung-Ho Yang, Hyeon-Man Baek

published 07 Sep 2018

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c-Myb regulates transcriptional activation of miR-143/145 in vascular smooth muscle cells

Mark Chandy, Masayoshi Ishida, Eric A. Shikatani, Omar El-Mounayri, Lawrence Changsu Park, Talat Afroze, Tao Wang, Philip A. Marsden, Mansoor Husain

published 31 Aug 2018

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Hotspot mutations and ColE1 plasmids contribute to the fitness of Salmonella Heidelberg in poultry litter

Adelumola Oladeinde, Kimberly Cook, Alex Orlek, Greg Zock, Kyler Herrington, Nelson Cox, Jodie Plumblee Lawrence, Carolina Hall

published 31 Aug 2018

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Substantial improvement of toyocamycin production in Streptomyces diastatochromogenes by cumulative drug-resistance mutations

Xu-Ping Shentu, Zhen-Yan Cao, Yin Xiao, Gu Tang, Kozo Ochi, Xiao-Ping Yu

published 30 Aug 2018

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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez-Quintero, Matthew J. Longley, Michio Hirano, Ali B. Naini, William C. Copeland

published 29 Aug 2018

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Designing bacterial signaling interactions with coevolutionary landscapes

Ryan R. Cheng, Ellinor Haglund, Nicholas S. Tiee, Faruck Morcos, Herbert Levine, Joseph A. Adams, Patricia A. Jennings, José N. Onuchic

published 20 Aug 2018

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Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, Xiaoge Zhou, Qing Liu, Gang Chen, Hualiang Xiao, Weihua Yin, Shigeo Nakamura, Huilan Rao

published 14 Aug 2018

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The scale-free nature of protein sequence space

Patrick C. F. Buchholz, Catharina Zeil, Jürgen Pleiss

published 01 Aug 2018

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An empirical study of collaborative capacity evaluation and scheduling optimization for a CPD project

Xiaolei Wang, Tiejun Ci, Sang-Bing Tsai, Aijun Liu, Quan Chen

published 01 Aug 2018

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