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Mutation databases

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

Mi-Ae Jang, Jong-Won Chung, Je Young Yeon, Jong-Soo Kim, Seung Chyul Hong, Oh Young Bang, Chang-Seok Ki

published 15 Jun 2017

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

published 02 Jun 2017

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Sequence statistics of tertiary structural motifs reflect protein stability

Fan Zheng, Gevorg Grigoryan

published 26 May 2017

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A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

published 25 May 2017

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

published 18 May 2017

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Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, Stephen D. Turner, Yongde Bao, Suporn Pholwat, Sayera Banu, Suporn Foongladda, Stellah Mpagama, Jean Gratz, Oleg Ogarkov, Svetlana Zhadova, Scott K. Heysell, Eric R. Houpt

published 18 May 2017

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An improved ant colony optimization algorithm with fault tolerance for job scheduling in grid computing systems

Hajara Idris, Absalom E. Ezugwu, Sahalu B. Junaidu, Aderemi O. Adewumi

published 17 May 2017

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Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

Jumana Yousuf Al-Aama, Noor Ahmad Shaik, Babajan Banaganapalli, Mohammed A. Salama, Omran Rashidi, Ahmed N. Sahly, Mohammed O. Mohsen, Harbi A. Shawoosh, Hebah Ahmad Shalabi, Mohammad Al Edreesi, Sameer E. Alharthi, Jun Wang, Ramu Elango, Omar I. Saadah

published 15 May 2017

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A decade of viral mutations and associated drug resistance in a population of HIV-1⁺ Puerto Ricans: 2002–2011

Lycely del C. Sepúlveda-Torres, Lavanya Rishishwar, Maria Luisa Rogers, Eddy Ríos-Olivares, Nawal Boukli, I. King Jordan, Luis A. Cubano

published 11 May 2017

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Succinct workflows for circulating tumor cells after enrichment: From systematic counting to mutational profiling

Victor Chun-Lam Wong, Josephine Mun-Yee Ko, Chi-Tat Lam, Maria Li Lung

published 08 May 2017

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Identification of potential new treatment response markers and therapeutic targets using a Gaussian process-based method in lapatinib insensitive breast cancer models

Tapesh Santra, Sandra Roche, Neil Conlon, Norma O’Donovan, John Crown, Robert O’Connor, Walter Kolch

published 08 May 2017

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Performance of TaqMan array card to detect TB drug resistance on direct specimens

Sayera Banu, Suporn Pholwat, Suporn Foongladda, Rattapha Chinli, Duangjai Boonlert, Sara Sabrina Ferdous, S. M. Mazidur Rahman, Arfatur Rahman, Shahriar Ahmed, Eric R. Houpt

published 04 May 2017

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Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach

Sneha P., Thirumal Kumar D., George Priya Doss C., Siva R., Hatem Zayed

published 14 Apr 2017

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