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Insertion mutation

A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates

Johannes Kopp, Alice Rovai, Michael Ott, Heiner Wedemeyer, Andreas Tiede, Hans Jürgen Böhmer, Tomas Marques, Jörg Langemeier, Jens Bohne, Simon Alexander Krooss

published 18 Oct 2024

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Effect of ACE mutations on blood ACE phenotype parameters

Olga V. Kryukova, Dmitry O. Korostin, Vera A. Belova, Valery V. Cheranev, Zhanna A. Repinskaia, Igor V. Uporov, Steven M. Dudek, Olga A. Kost, Denis V. Rebrikov, Sergei M. Danilov

published 08 Oct 2024

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A convenient five-segment cassette procedure for DNA insertions coding for novel peptides

Jonathan Filley

published 26 Jul 2024

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Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

Pedro Garrido-Rodríguez, Miguel Carmena-Bargueño, María Eugenia de la Morena-Barrio, Carlos Bravo-Pérez, Belén de la Morena-Barrio, Rosa Cifuentes-Riquelme, María Luisa Lozano, Horacio Pérez-Sánchez, Javier Corral

published 05 Jul 2024

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Multi-objective optimization using improved NSGA-II for integrated process planning and scheduling problems in a machining job shop for large-size valve

Junqiang Wang, Lihua Xu, Shuangqiu Sun, Yunfei Ma, Guofeng Yu

published 25 Jun 2024

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Clinicopathological and prognostic implications of EGFR mutations subtypes in Moroccan non-small cell lung cancer patients: A first report

Sara Boukansa, Ismail Mouhrach, Fatima El Agy, Sanae El Bardai, Laila Bouguenouch, Mounia Serraj, Bouchra Amara, Yassine Ouadnouni, Mohamed Smahi, Badreeddine Alami, Nawfel Mellas, Zineb Benbrahim, Hinde El Fatemi

published 05 Jun 2024

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The association of EGFR amplification with aberrant exon 20 insertion report using the cobas EGFR Mutation Test v2

Man-San Zhang, Yi-Chen Yeh, Hsien-Neng Huang, Long-Wei Lin, Yen-Lin Huang, Lei-Chi Wang, Lai-Jin Yao, Tze-Chun Hung, Yu-Fen Tseng, Yi-Hsuan Lee, Wei-Yu Liao, Jin-Yuan Shih, Min-Shu Hsieh

published 30 Apr 2024

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Performance characteristics of a polymerase chain reaction-based assay for the detection of EGFR mutations in plasma cell-free DNA from patients with non-small cell lung cancer using cell-free DNA collection tubes

Theresa May, Michelle S. Clement, Harkanwal Halait, Alexander Kohlmann, Milena Kohlmann, Jason Lai, Nitta Lee, Xiaocheng Li-Sucholeiki, Peter Meldgaard, Snehal Joshi, Sidney Scudder, Neelima Shrestha, Boe Sorensen, Marilyn Kiral, Patrick O’Donnell

published 09 Apr 2024

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Enzymatic properties of UDP-glycosyltransferase 89B1 from radish and modulation of enzyme catalytic activity via loop region mutation

Hiroyuki Ohashi, Daisuke Koma, Hayato Yamanaka, Takashi Ohmoto

published 28 Feb 2024

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Structure characteristics of mutation sites in two waxy alleles from Yunnan waxy maize (Zea mays L. var. certaina Kulesh) landraces

Tingting Sun, Xiaoyang Wu

published 08 Sep 2023

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Characterization of 14 Triticum species for the NAM-B1 gene and its associated traits

Fatemeh Shoormij, Aghafakhr Mirlohi, David Chan-Rodriguez, Hanna Bolibok-Brągoszewska, Ghodratollah Saeidi

published 22 Aug 2023

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Oocyte-specific Wee1-like protein kinase 2 is dispensable for fertility in mice

Kaori Nozawa, Zian Liao, Yuhkoh Satouh, Ting Geng, Masahito Ikawa, Diana Monsivais, Martin M. Matzuk

published 01 Aug 2023

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Temporal convolutional network for a Fast DNA mutation detection in breast cancer data

Untari Novia Wisesty, Tati Rajab Mengko, Ayu Purwarianti, Adi Pancoro

published 25 May 2023

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