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Deletion mutation

Patients with Exon 19 Deletion Were Associated with Longer Progression-Free Survival Compared to Those with L858R Mutation after First-Line EGFR-TKIs for Advanced Non-Small Cell Lung Cancer: A Meta-Analysis

Yaxiong Zhang, Jin Sheng, Shiyang Kang, Wenfeng Fang, Yue Yan, Zhihuang Hu, Shaodong Hong, Xuan Wu, Tao Qin, Wenhua Liang, Li Zhang

published 15 Sep 2014

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Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, Ahoura Arasteh Kani, Omid Aryani, Mahdi Tondar, Fatemeh Ahmadipour, Lip Yong Chung, Massoud Houshmand

published 12 Sep 2014

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Systematic Production of Inactivating and Non-Inactivating Suppressor Mutations at the relA Locus That Compensate the Detrimental Effects of Complete spoT Loss and Affect Glycogen Content in Escherichia coli

Manuel Montero, Mehdi Rahimpour, Alejandro M. Viale, Goizeder Almagro, Gustavo Eydallin, Ángel Sevilla, Manuel Cánovas, Cristina Bernal, Ana Belén Lozano, Francisco José Muñoz, Edurne Baroja-Fernández, Abdellatif Bahaji, Hirotada Mori, Francisco M. Codoñer, Javier Pozueta-Romero

published 04 Sep 2014

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Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Quan Li, Xiaoming Liu, Richard A. Gibbs, Eric Boerwinkle, Constantin Polychronakos, Hui-Qi Qu

published 19 Aug 2014

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Variation in the Fitness Effects of Mutations with Population Density and Size in Escherichia coli

Huansheng Cao, Kevin Butler, Mithi Hossain, James D. Lewis

published 14 Aug 2014

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Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang

published 12 Aug 2014

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Frequent Loss and Alteration of the MOXD2 Gene in Catarrhines and Whales: A Possible Connection with the Evolution of Olfaction

Dong Seon Kim, Yao Wang, Hye Ji Oh, Kangseok Lee, Yoonsoo Hahn

published 07 Aug 2014

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Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek-Shir Cheong, Pirro G. Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B. Ruddle, Hala Ali, Nicole Carnt, Jessica C. Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R. Webb, David Laws, Michael Cosgrove, Jens M. Hertz, Isabelle Russell-Eggitt, Daniela T. Pilz, Christopher J. Hammond, Stephen J. Tuft, Alison J. Hardcastle

published 05 Aug 2014

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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, Melania Moreno, Laura Torres, Gonzalo Santana-Lopez, Carlos Rodriguez-Medina, María Perera, Beatriz Bellosillo, Silvia de la Iglesia, Teresa Molero, Maria Teresa Gomez-Casares

published 28 Jul 2014

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Mining TCGA Data Using Boolean Implications

Subarna Sinha, Emily K. Tsang, Haoyang Zeng, Michela Meister, David L. Dill

published 23 Jul 2014

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Genetic Mutation Analysis of Human Gastric Adenocarcinomas Using Ion Torrent Sequencing Platform

Zhi Xu, Xinying Huo, Hua Ye, Chuanning Tang, Vijayalakshmi Nandakumar, Feng Lou, Dandan Zhang, Haichao Dong, Hong Sun, Shouwen Jiang, Guangchun Zhang, Zhiyuan Liu, Zhishou Dong, Baishuai Guo, Yan He, Chaowei Yan, Lu Wang, Ziyi Su, Yangyang Li, Dongying Gu, Xiaojing Zhang, Xiaomin Wu, Xiaowei Wei, Lingzhi Hong, Yangmei Zhang, Jinsong Yang, Yonglin Gong, Cuiju Tang, Lindsey Jones, Xue F. Huang, Si-Yi Chen, Jinfei Chen

published 15 Jul 2014

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Molecular Epidemiological Characterization and Health Burden of Thalassemia in Jiangxi Province, P. R. China

Min Lin, Tian-Yu Zhong, Yi-Guo Chen, Jian-Zhong Wang, Jiao-Ren Wu, Fen Lin, Xin Tong, Hui-Tian Yang, Xiao-Mei Hu, Rong Hu, Xiao-Fen Zhan, Hui Yang, Zhao-Yun Luo, Wen-Yu Li, Li-Ye Yang

published 07 Jul 2014

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The Histone Demethylase Activity of Rph1 is Not Essential for Its Role in the Transcriptional Response to Nutrient Signaling

Niklas Nordberg, Ida Olsson, Mattias Carlsson, Guo-Zhen Hu, Jakub Orzechowski Westholm, Hans Ronne

published 07 Jul 2014

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