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Mutation databases

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene

Lorenza Mittempergher, Anna M. Piskorz, Astrid J. Bosma, Magali Michaut, G. Bea A. Wisman, Roelof J. C. Kluin, Marja Nieuwland, Wim Brugman, Kevin J. W. van der Ven, Francesco Marass, James Morris, Nitzan Rosenfeld, Mercedes Jimenez-Linan, Steven de Jong, Ate G. J. van der Zee, James D. Brenton, René Bernards

published 08 Jul 2020

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Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, Amit Kawalia, Maria-Theodora Melissari, Tikam Chand Dakal, Athira M. Menon, Julia Höfele, Korbinian Riedhammer, Lea Waffenschmidt, Julia Fabian, Katinka Breuer, Jeshurun Kalanithy, Alina Christine Hilger, Amit Sharma, Alice Hölscher, Thomas M. Boemers, Markus Pauly, Andreas Leutner, Jörg Fuchs, Guido Seitz, Barbara M. Ludwikowski, Barbara Gomez, Jochen Hubertus, Andreas Heydweiller, Ralf Kurz, Johannes Leonhardt, Ferdinand Kosch, Stefan Holland-Cunz, Oliver Münsterer, Beno Ure, Eberhard Schmiedeke, Jörg Neser, Petra Degenhardt, Stefanie Märzheuser, Katharina Kleine, Mattias Schäfer, Nicole Spychalski, Oliver J. Deffaa, Jan-Hendrik Gosemann, Martin Lacher, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Phillip Grote, Johannes Schumacher, Holger Thiele, Heiko Reutter

published 05 Jun 2020

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High polymerase ε expression associated with increased CD8+T cells improves survival in patients with non-small cell lung cancer

Kyueng-Whan Min, Wan-Seop Kim, Dong-Hoon Kim, Byoung Kwan Son, Young Ha Oh, Mi Jung Kwon, Hye Seung Lee, Seung Eun Lee, In Ae Kim, Ji-Yong Moon, Kyoung-Yeon Kim, Jung-Hoon Park

published 20 May 2020

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High prevalence of phenotypic pyrazinamide resistance and its association with pncA gene mutations in Mycobacterium tuberculosis isolates from Uganda

Resty Naluyange, Gerald Mboowa, Kevin Komakech, Derrick Semugenze, David Patrick Kateete, Willy Ssengooba

published 15 May 2020

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Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi

published 14 May 2020

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Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil

Juliana Carla Gomes Rodrigues, Tatiane Piedade de Souza, Lucas Favacho Pastana, André Maurício Ribeiro dos Santos, Marianne Rodrigues Fernandes, Pablo Pinto, Alayde Vieira Wanderley, Sandro José de Souza, José Eduardo Kroll, Adenilson Leão Pereira, Leandro Magalhães, Laís Reis das Mercês, Amanda Ferreira Vidal, Tatiana Vinasco-Sandoval, Giovanna Chaves Cavalcante, João Farias Guerreiro, Paulo Pimentel de Assumpção, Ândrea Ribeiro-dos-Santos, Sidney Santos, Ney Pereira Carneiro dos Santos

published 15 Apr 2020

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Tryptophan residue 32 in human Cu-Zn superoxide dismutase modulates prion-like propagation and strain selection

Anthony Crown, Luke McAlary, Eric Fagerli, Hilda Brown, Justin J. Yerbury, Ahmad Galaleldeen, Neil R. Cashman, David R. Borchelt, Jacob I. Ayers

published 30 Jan 2020

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Increasing prevalence of a fluoroquinolone resistance mutation amongst Campylobacter jejuni isolates from four human infectious intestinal disease studies in the United Kingdom

Sam Haldenby, Christina Bronowski, Charlotte Nelson, John Kenny, Carmen Martinez-Rodriguez, Roy Chaudhuri, Nicola J. Williams, Ken Forbes, Norval J. Strachan, Jane Pulman, Ian N. Winstanley, Caroline E. Corless, Tom J. Humphrey, Frederick J. Bolton, Sarah J. O’Brien, Neil Hall, Christiane Hertz-Fowler, Craig Winstanley

published 30 Jan 2020

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Two novel mutations in MSX1 causing oligodontia

Le Yang, Jia Liang, Haitang Yue, Zhuan Bian

published 08 Jan 2020

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Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, Edward Smith, Dennis J. Konczyk, Patrick J. Smits, Christopher L. Sudduth, Christopher Stapleton, Aman Patel, Sanda Alexandrescu, Matthew L. Warman, Arin K. Greene

published 31 Dec 2019

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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, Xiaohua Ou, Zhen Zhao, Changming Hu, Mingming Sun, Feifei Liu, Junhao Deng, Weili Gu, Jiaying An, Qingling Zhang, Xiaoxian Zhang, Jiaxing Xie, Shiyue Li, Rongchang Chen, Shihui Yu, Nanshan Zhong

published 19 Dec 2019

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Multiscale analysis for patterns of Zika virus genotype emergence, spread, and consequence

Monica K. Borucki, Nicole M. Collette, Lark L. Coffey, Koen K. A. Van Rompay, Mona H. Hwang, James B. Thissen, Jonathan E. Allen, Adam T. Zemla

published 06 Dec 2019

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Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing

You Jin Chun, Jae Woo Choi, Min Hee Hong, Dongmin Jung, Hyeonju Son, Eun Kyung Cho, Young Joo Min, Sang-We Kim, Keunchil Park, Sung Sook Lee, Sangwoo Kim, Hye Ryun Kim, Byoung Chul Cho, Korean Lung Cancer Consortium (KLCC)

published 25 Nov 2019

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