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Mutation databases

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients

Priya Dev, Jenefer M. Blackwell, Rajiv Kumar, Vijay Mishra, Abhishek Pathak

published 20 Feb 2026

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Multi-omics analysis indicates an association between TAPBP and prostate cancer

Xinlong Wang, Aimin Jiang, Chao Li, Zhiyong Liu

published 21 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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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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18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia

Yang Liu, Shao-Chi Zhang, Wen Zhang, Zhong-Qi Xue, Yi-Xuan Qin, Shun-Yu Piao, Wen-Jing Li, Meng-Li Ji, Wen-Juan Zhuang

published 08 Sep 2025

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Prevalence of HIV drug resistance, its correlates and common mutations among people living with HIV failing on ART in northern Uganda: A cross-sectional study

Francis Kayinda, Phyllis Awor, Twaha Mahaba, Alex M. Muganzi, Joanita Kigozi, Patrick Odong Olwedo, Esther M. Nasuuna, Robert Mutumba, Rhoda Wanyenze

published 05 Aug 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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Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta

Nazlee Sharmin, Jerald Yuan, Ava K. Chow

published 26 Jun 2025

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Characterization of the genomic landscape of canine oral osteosarcoma reveals similarities with appendicular osteosarcoma

Christopher Husted, Sarah Adrianowycz, Cornelia Peterson, Suzanne Bartholf DeWitt, Elinor K. Karlsson, William Eward, Jason A. Somarelli, Kate Megquier, Heather L. Gardner

published 10 Jun 2025

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SARS-COV-2 mutations in North Rift, Kenya

Elius Mbogori, Kelvin Thiongo, Harrison Yunying Deng, Caroline Wangui Gikunyu, Winfrida Cheriro, Stanslaus Musyoki, Richard Biegon, Damaris Matoke-Muhia, Kirtika Patel, Binhua Liang, Elijah Songok

published 06 Jun 2025

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Benchmarking inverse folding models for antibody CDR sequence design

Yifan Li, Yuxiang Lang, Chenrui Xu, Yi Zhou, Ziwei Pang, Per Jr. Greisen

published 04 Jun 2025

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Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease

Juan A. De Pablo-Moreno, Leopoldo González-Brusi, Andrea Miguel-Batuecas, Pablo Bermejo-Álvarez, Luis Revuelta, Antonio Liras

published 02 Jun 2025

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Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis

Hajin Jeon, Jong Lyul Lee, Hyeran Shim, Soobok Joe, Iksu Byeon, Chan Wook Kim, Seok-Byung Lim, In Ja Park, Yong Sik Yoon, Hoang Bao Khanh Chu, Young-Joon Kim, Chang Sik Yu, Jin Ok Yang

published 23 May 2025

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