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Mutation databases

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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Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders

Xiangjun Huang, Xinyue Deng, Xiong Deng, Hongbo Xu, Hao Deng, Lamei Yuan

published 23 Apr 2025

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Mis-splicing drives loss of function of p53^E224D point mutation

Ian C. Lock, Nathan H. Leisenring, Warren Floyd, Eric S. Xu, Lixia Luo, Yan Ma, Erin C. Mansell, Diana M. Cardona, Chang-Lung Lee, David G. Kirsch

published 05 Mar 2025

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Mutational alterations in the QRDR regions associated with fluoroquinolone resistance in Pseudomonas aeruginosa of clinical origin from Savar, Dhaka

Md. Shamsul Arefin, Meftahul Jannat Mitu, Shomaia Yasmin Mitu, Azmery Nurjahan, Mir Mobin, Shamsun Nahar, Hasnain Anjum, M. Hasibur Rahman

published 24 Feb 2025

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Computational investigation of missense somatic mutations in cancer and potential links to pH-dependence and proteostasis

Shalaw Sallah, Jim Warwicker

published 19 Nov 2024

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Interactions between microbiota and uterine corpus endometrial cancer: A bioinformatic investigation of potential immunotherapy

Samia S. Alkhalil, Taghreed N. Almanaa, Raghad A. Altamimi, Mohnad Abdalla, Amr Ahmed El-Arabey

published 30 Oct 2024

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Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

Ya-nan Hu, Min Wu, Hong-ping Yu, Qiu-yan Wu, Ying Chen, Jian-Hui Zhang, Dan-dan Ruan, Yan-ping Zhang, Jing Zou, Li Zhang, Xin-fu Lin, Zhu-ting Fang, Li-Sheng Liao, Fan Lin, Hong Li, Jie-Wei Luo

published 11 Oct 2024

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Systematic analysis of SARS-CoV-2 Omicron subvariants’ impact on B and T cell epitopes

Ruba Al Khalaf, Anna Bernasconi, Pietro Pinoli

published 19 Sep 2024

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Comparative genomic landscape of lower-grade glioma and glioblastoma

Xinxin Sun, Qingbin Jia, Kun Li, Conghui Tian, Lili Yi, Lili Yan, Juan Zheng, Xiaodong Jia, Mingliang Gu

published 29 Aug 2024

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An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations

Ramu Anandakrishnan, Ryan Shahidi, Andrew Dai, Veneeth Antony, Ian J. Zyvoloski

published 22 Aug 2024

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Effects of KRAS, STK11, KEAP1, and TP53 mutations on the clinical outcomes of immune checkpoint inhibitors among patients with lung adenocarcinoma

Yao Liang, Osamu Maeda, Chiaki Kondo, Kazuki Nishida, Yuichi Ando

published 22 Jul 2024

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Prevalence of BRCA mutation in breast and ovarian cancer among women in India: A systematic review and meta-analysis protocol

Abhilash Patra, Syeda Sana Ali, Ng Marina Devi, Amatullah Sana Qadeer, Sureshkumar Kamalakannan, Shona Nag, Shriniwas Subhash Kulkarni, Senthil Rajappa, Nisha Hariharan, Hira Ballabh Pant, Varun Agiwal, Nirupama A. Y.

published 16 Jul 2024

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