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Point mutation

Influence of the tumor microenvironment on genetic mutations in thyroid carcinoma

Lingyan Zhou, Shujian Xu, Yuwen Song, Dongqing Jiang, Shihong Chen

published 12 Feb 2026

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In-silico characterization of deleterious non-synonymous SNPs in the human S1PR1 gene reveals structural instability and altered ligand affinity

Sangram Biswas, Dipankar Sardar, Md. Arju Hossain, Soharth Hasnat, Arif Hossain Ramjan, Ummah Kulsum Nazifa, Fatema-Tuz Zohora, Ishrat Jahan Esha, Chandrika Mondal, Abdul Barik, M. Nazmul Hoque

published 02 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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Optimizing gamma irradiation for mutation breeding in seedless barberry (Berberis vulgaris L.): Establishing LD₅₀ and GR₅₀ thresholds

Mehri Asadi Zargh Abad, Gholamreza Rabiei, Ali Akbar Ghasemi-Soloklui, Mojtaba Kordrostami, Mohammad Rabiei

published 13 Nov 2025

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PRMT5 genetic interactions with DNA double strand break repair genes

Hunter J. Bliss, Juliana Tron, Wesley Bush, Renee A. Bouley, Ruben C. Petreaca

published 09 Oct 2025

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A single PCR-sequencing method to establish the frequency of kdr alleles in the stable fly, Stomoxys calcitrans: application to seven livestock farms from south of France

Mariana Ribeiro Sato, Géraldine Bossard, Guilhem Sempere, Philippe Jacquiet, Christelle Grisez, Geoffrey Gimonneau, Marc Desquesnes

published 16 Sep 2025

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Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese

Feng Li, Weiying Chen, Zhenyu Chen, Bijun Lian, Xudong Fang, Hangyang Jin, Huihong Wang, Jianqiang Zhao, Yiming Zhang, Xiaoping Qi

published 11 Sep 2025

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Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation

Bo Wu, Pei Juan Lu, Morgan Drains, Sapana Shah, Anthony Blaeser, Victoria Leroy, Jessalyn Killilee, Molly Holbrook, Qi Long Lu

published 20 Aug 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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Apparent differences between human and chimp proteomes are reduced when considering human population: Human specific variants are enriched in disordered and compositionally biased regions

Pablo Mier, Miguel A. Andrade-Navarro, Enrique Morett

published 31 Jul 2025

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Off-target sequence variations driven by the intrinsic properties of the Cas–sgRNA–DNA complex in genome editing

Celine Kurniawan, Takeshi Itoh

published 18 Jul 2025

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Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities

Mohammed Ageeli Hakami, Ahad Amer Alsaiari, Taj Mohammad, Anas Shamsi

published 15 Jul 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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