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Mutation databases

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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Genetic diversity and antiretroviral resistance-associated mutation profile of treated and naive HIV-1 infected patients from the Northwest and Southwest regions of Cameroon

Henry Dilonga Meriki, Kukwah Anthony Tufon, Damian Nota Anong, Pascal Nji Atanga, Irene Ane Anyangwe, Fidelis Cho-Ngwa, Theresa Nkuo-Akenji

published 21 Nov 2019

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Major drug resistance mutations to HIV-1 protease inhibitors (PI) among patients exposed to PI class failing antiretroviral therapy in São Paulo State, Brazil

Giselle de Faria Romero Soldi, Isadora Coutinho Ribeiro, Cintia Mayumi Ahagon, Luana Portes Ozório Coelho, Gabriela Bastos Cabral, Giselle Ibette Silva López Lopes, João Leandro de Paula Ferreira, Luís Fernando de Macedo Brígido, on behalf of the Salvage Therapy Working Group

published 01 Oct 2019

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases

Young-Ho Kim, Yura Song, Jong-Kwang Kim, Tae-Min Kim, Hye Won Sim, Hyung-Lae Kim, Hyonchol Jang, Young-Woo Kim, Kyeong-Man Hong

published 12 Sep 2019

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Understanding the impacts of missense mutations on structures and functions of human cancer-related genes: A preliminary computational analysis of the COSMIC Cancer Gene Census

Sony Malhotra, Ali F. Alsulami, Yang Heiyun, Bernardo Montano Ochoa, Harry Jubb, Simon Forbes, Tom L. Blundell

published 19 Jul 2019

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Acute myeloid leukemia immunopeptidome reveals HLA presentation of mutated nucleophosmin

Rupa Narayan, Niclas Olsson, Lisa E. Wagar, Bruno C. Medeiros, Everett Meyer, Debra Czerwinski, Michael S. Khodadoust, Lichao Zhang, Liora Schultz, Mark M. Davis, Joshua E. Elias, Ron Levy

published 10 Jul 2019

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Prediction of disease-associated mutations in the transmembrane regions of proteins with known 3D structure

Petr Popov, Ilya Bizin, Michael Gromiha, Kulandaisamy A, Dmitrij Frishman

published 10 Jul 2019

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Loss of function Cbl-c mutations in solid tumors

Silvano Rakeem Daniels, Mariya Liyasova, Stephen C. Kales, Marion M. Nau, Philip E. Ryan, Jeffrey E. Green, Stanley Lipkowitz

published 01 Jul 2019

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In silico analysis of PFN1 related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Giovanni Henrique Almeida Silva Tellini, Joelma Freire De Mesquita

published 19 Jun 2019

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MLST typing of Treponema pallidum subsp. pallidum in the Czech Republic during 2004-2017: Clinical isolates belonged to 25 allelic profiles and harbored 8 novel allelic variants

Eliška Vrbová, Linda Grillová, Lenka Mikalová, Petra Pospíšilová, Radim Strnadel, Eliška Dastychová, Martina Kojanová, Miluše Kreidlová, Daniela Vaňousová, Filip Rob, Přemysl Procházka, Alena Krchňáková, Vladimír Vašků, Vladana Woznicová, Monika Dvořáková Heroldová, Ivana Kuklová, Hana Zákoucká, David Šmajs

published 31 May 2019

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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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