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Mutation databases

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-ichi Usami

published 16 May 2019

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Mutplot: An easy-to-use online tool for plotting complex mutation data with flexibility

Weiwei Zhang, Cheng Wang, Xuan Zhang

published 15 May 2019

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Alleles associated with physical activity levels are estimated to be older than anatomically modern humans

Ayland C. Letsinger, Jorge Z. Granados, Sarah E. Little, J. Timothy Lightfoot

published 29 Apr 2019

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Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening

Eric Manderstedt, Rosanna Nilsson, Christina Lind-Halldén, Rolf Ljung, Jan Astermark, Christer Halldén

published 26 Apr 2019

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Arsenite malignantly transforms human prostate epithelial cells in vitro by gene amplification of mutated KRAS

B. Alex Merrick, Dhiral P. Phadke, Meredith A. Bostrom, Ruchir R. Shah, Garron M. Wright, Xinguo Wang, Oksana Gordon, Katherine E. Pelch, Scott S. Auerbach, Richard S. Paules, Michael J. DeVito, Michael P. Waalkes, Erik J. Tokar

published 22 Apr 2019

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Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Xiaopei Zhou, Weimin Jia, Zhengyi Ni, Ali Wang, Zhenxing Liu, Meiqi Hou, Mi Zhou, Zhongwen Tang, Dazhi Zhang, Lei Li, Tiantian Han, Yang Tan, Geng Luo, Jiarui Wang, Yanling Wu, Xianqin Zhang

published 18 Apr 2019

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Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors

Sara Morcillo-Garcia, Maria del Mar Noblejas-Lopez, Cristina Nieto-Jimenez, Javier Perez-Peña, Miriam Nuncia-Cantarero, Balázs Győrffy, Eitan Amir, Atanasio Pandiella, Eva M. Galan-Moya, Alberto Ocana

published 16 Apr 2019

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Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau, Lorena Martín-Aguilar, Cinta Lleixà, Andrea Cortese, Oriol Dols-Icardo, Laura Cervera-Carles, Elba Pascual-Goñi, Jordi Diaz-Manera, Ilaria Calegari, Diego Franciotta, Ricard Rojas-Garcia, Isabel Illa, Jordi Clarimon, Luis Querol

published 22 Feb 2019

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HuVarBase: A human variant database with comprehensive information at gene and protein levels

Kaliappan Ganesan, A. Kulandaisamy, S. Binny Priya, M. Michael Gromiha

published 31 Jan 2019

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Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study

Magali Olivier, Liacine Bouaoun, Stephanie Villar, Alexis Robitaille, Vincent Cahais, Adriana Heguy, Graham Byrnes, Florence Le Calvez-Kelm, Gabriela Torres-Mejía, Isabel Alvarado-Cabrero, Fazlollah Shahram Imani-Razavi, Gloria Inés Sánchez, Roberto Jaramillo, Carolina Porras, Ana Cecilia Rodriguez, Maria Luisa Garmendia, José Luis Soto, Isabelle Romieu, Peggy Porter, Jamie Guenthoer, Sabina Rinaldi, on behalf of the PRECAMA team

published 17 Jan 2019

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Familial episodic limb pain in kindreds with novel Nav1.9 mutations

Risako Kabata, Hiroko Okuda, Atsuko Noguchi, Daiki Kondo, Michimasa Fujiwara, Kenichiro Hata, Yoshifumi Kato, Ken Ishikawa, Manabu Tanaka, Yuji Sekine, Nozomi Hishikawa, Tomoyuki Mizukami, Junichi Ito, Manami Akasaka, Ken Sakurai, Takeshi Yoshida, Hironori Minoura, Takashi Hayashi, Kohei Inoshita, Misayo Matsuyama, Noriko Kinjo, Yang Cao, Sumiko Inoue, Hatasu Kobayashi, Kouji H. Harada, Shohab Youssefian, Tsutomu Takahashi, Akio Koizumi

published 17 Dec 2018

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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

published 05 Dec 2018

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Evaluation of transcriptionally regulated genes identifies NCOR1 in hormone receptor negative breast tumors and lung adenocarcinomas as a potential tumor suppressor gene

María del Mar Noblejas-López, Sara Morcillo-García, Cristina Nieto-Jiménez, Miriam Nuncia-Cantarero, Balázs Győrffy, Eva M. Galan-Moya, Atanasio Pandiella, Alberto Ocaña

published 28 Nov 2018

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