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Mutation databases

ADAMTSL2 is a potential prognostic biomarker and immunotherapeutic target for colorectal cancer: Bioinformatic analysis and experimental verification

Zhe Huang, Xu Hu, Yiqiu Wei, Yousheng Lai, Jiaming Qi, Jinglin Pang, Kang Huang, Huagui Li, Pengzhu Cai

published 30 May 2024

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GTExome: Modeling commonly expressed missense mutations in the human genome

Jill Hoffman, Henry Tan, Clara Sandoval-Cooper, Kaelyn de Villiers, Scott M. Reed

published 30 May 2024

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Identifying widespread and recurrent variants of genetic parts to improve annotation of engineered DNA sequences

Matthew J. McGuffie, Jeffrey E. Barrick

published 28 May 2024

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Predisposing deleterious variants in the cancer-associated human kinases in the global populations

Salman Ahmed Khan, Misbah Anwar, Atia Gohar, Moom R. Roosan, Daniel C. Hoessli, Ambrina Khatoon, Muhammad Shakeel

published 18 Apr 2024

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CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing

Sijia Xu, Hiroki Shiomi, Yugo Yamashita, Satoshi Koyama, Takahiro Horie, Osamu Baba, Masahiro Kimura, Yasuhiro Nakashima, Naoya Sowa, Koji Hasegawa, Ayako Suzuki, Yutaka Suzuki, Takeshi Kimura, Koh Ono

published 20 Mar 2024

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Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms

Anda Stan, Korey Bosart, Mehak Kaur, Martin Vo, Wilber Escorcia, Ryan J. Yoder, Renee A. Bouley, Ruben C. Petreaca

published 26 Feb 2024

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Genetic profiling of rat gliomas and cardiac schwannomas from life-time radiofrequency radiation exposure study using a targeted next-generation sequencing gene panel

Ashley M. Brooks, Andrea Vornoli, Ramesh C. Kovi, Thai Vu T. Ton, Miaofei Xu, Ahmed Mashal, Eva Tibaldi, Federica Gnudi, Jian-Liang Li, Robert C. Sills, John R. Bucher, Daniele Mandrioli, Fiorella Belpoggi, Arun R. Pandiri

published 17 Jan 2024

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Comprehensive somatic mutational analysis in glioblastoma: Implications for precision medicine approaches

Parisa Azimi, Mina Karimpour, Taravat Yazdanian, Mehdi Totonchi, Abolhassan Ahmadiani

published 02 Jan 2024

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In silico analysis of TRPM4 variants of unknown clinical significance

Svetlana I. Tarnovskaya, Anna A. Kostareva, Boris S. Zhorov

published 15 Dec 2023

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The tubulin database: Linking mutations, modifications, ligands and local interactions

Izra Abbaali, Danny Truong, Shania Deon Day, Faliha Mushayeed, Bhargavi Ganesh, Nancy Haro-Ramirez, Juliet Isles, Hindol Nag, Catherine Pham, Priya Shah, Ishaan Tomar, Carolina Manel-Romero, Naomi S. Morrissette

published 08 Dec 2023

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Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP

Åsa Schawlann Ølnes, Marianne Teigen, Jon K. Laerdahl, Trond P. Leren, Thea Bismo Strøm, Katrine Bjune

published 01 Dec 2023

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Phenotypic drug-susceptibility profiles and genetic analysis based on whole-genome sequencing of Mycobacterium avium complex isolates in Thailand

Auttawit Sirichoat, Orawee Kaewprasert, Yothin Hinwan, Kiatichai Faksri

published 22 Nov 2023

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Polymorphic variations and mRNA expression of the genes encoding interleukins as well as enzymes of oxidative and nitrative stresses as a potential risk of nephrolithiasis development

Paulina Wigner-Jeziorska, Radosław Grębowski, Joanna Saluk, Michał Bijak, Janusz Szemraj

published 25 Oct 2023

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