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Mutation detection

Choosing the best route: Comparative optimization of wheat transformation methods for improving yield by targeting TaARE1-D with CRISPR/Cas9

Mumin Ibrahim Tek, Kubra Budak Tek, Pelin Sarikaya, Abdul Razak Ahmed, Hakan Fidan

published 09 Feb 2026

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Association analysis of Mycoplasma pneumoniae 23S rRNA gene mutation with refractory Mycoplasma pneumoniae pneumonia in children

Wen Li, Wei Gao, Xiaoyu Xiong, Xuan Tang, Aimin Li

published 29 Jan 2026

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Analytical validation of a hybrid-approach combining tumor-informed and tumor-agnostic bespoke ctDNA panel assay for the sensitive detection of minimal residual disease

Sunghoon Heo, Seon-Kyu Ham, Hayoon Lee, Bom Han, Hanseong Roh, Seongmun Jeong, Hwang-Phill Kim, Duhee Bang, Sang-Hyun Song, Tae-You Kim

published 10 Nov 2025

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Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

Torin Abdulaziz Sadoon, Hemin Esmael Othman

published 07 Nov 2025

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Integrating genomic epidemiology and deep mutational scanning data for prevalence forecasting of SARS-CoV-2 Omicron lineages

Zhong-yi Lei, Xiao-min Zhang, Jia-lu Han, Ji-guo Xue, Jia-yi Xu, Zi-lin Ren, Yi-gang Tong, Xiao-chen Bo, Ming Ni

published 03 Nov 2025

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HLF gene is a poor prognostic factor in acute myeloid leukemia patients with FLT3-ITD/NPM1 mutations undergoing hematopoietic transplantation

Xiaoyu Xu, Xinxin Ge, Airui Jiang, Jia Chen, Qiaocheng Qiu, Zixuan Ding, Mingqing Zhu, Jinlan Pan, Zixing Chen, Wenwen Du, Depei Wu, Suning Chen, Hongjie Shen

published 14 Oct 2025

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G6PD deficiency in Malaysia’s Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study

Mohamed Afiq Hidayat Zailani, Raja Zahratul Azma Raja Sabudin, Muhammad-Redha Abdullah-Zawawi, Azlin Ithnin, Hafiza Alauddin, Siti Aishah Sulaiman, Najiah Ajlaa Ayub, Rinie Awai@Albert, Muhammad Dinie Afif Jamaludin, Muhammad Ziqrill Mohd Zapri, Ainoon Othman

published 10 Oct 2025

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Identification of coexisting Mfrp^rd6 and Pde6b^rd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice

Asaka Lee Shiozawa, Maika Hosoi Kobayashi, Yusuke Shiozawa, Yasuhiro Ikeda, Yoshitaka Miyagawa, Fumiki Okamoto, Mashito Sakai, Takashi Okada, Tsutomu Igarashi

published 23 Sep 2025

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Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand

Supat Chamnanchanunt, Beatriz Aira C. Jacob, Vipa Thanachartwet, Varunee Desakorn, Natsamon Singha-art, Duangjai Sahassananda, Kamonwan Chamchoy, Naveen Eugene Louis, Muawiaa Ahmed Hamza, Nurriza Ab Latif, Syazwani Itri Amran, Henry A. F. Stephens, Wang Nguitragool, Usa Boonyuen

published 18 Sep 2025

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Evaluation of the Xpert MTB/XDR test for detection of isoniazid, fluoroquinolones, and second-line injectable drugs resistance to Mycobacterium tuberculosis—Anhui Province, China

Ruiqing Zhang, Xundi Bao, Fangjin Bao, Chong Teng, Dongfang Xu, Zhou Liu, Yue Li, Bing Zhao, Hui Xia, Ruida Xing, Xichao Ou, Yanlin Zhao

published 12 Sep 2025

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Interferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease

Daniel R. Ambruso, Natalie J. Briones, Alexander D. Tran, Bridget Sanford, Christine Childs, Ben Z. Katz, Michael Ellison, Richard B. Johnston, Kenneth L. Jones

published 08 Sep 2025

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Prevalence and diagnostic reliability of BRAF, RAS mutations, and RET/PTC rearrangements in a Latin American public health service population with thyroid nodular disease

Freddy David Moposita Molina, Grasiela Agnes, Marília Remuzzi Zandoná, Rogério Izquierdo, Fábio Alves Bilhar, Laura Berton Eidt, Virgílio Gonzales Zanella, Luiz Felipe Osowski, Sofia de Oliveira Belardinelli, Amanda Cometti de Andrade, Erika Laurini de Souza Meyer, Lenara Golbert, Vanessa Suñé Mattevi

published 01 Aug 2025

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Next-Generation Sequencing (NGS) in non-small cell lung carcinoma: A real-world experience in the public health system of Galicia (Northwest Spain)

Ihab Abdulkader-Nallib, José Manuel Cameselle-Teijeiro, Iván Lesende-Rodríguez, Raquel Pérez-Becerra, José Ramón Antúnez-López, Jorge García-González, Luis León-Mateos, María Sánchez-Ares

published 01 Jul 2025

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