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Mutation databases

Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations

Justin Cottrell, Peter Dixon, Xingshan Cao, Alex Kiss, Kari Smilsky, Kassandra Kaminskas, Amy Ng, David Shipp, Andrew Dimitrijevic, Joseph Chen, Vincent Lin, Lianna Kyriakopoulou, Trung Le

published 15 Sep 2023

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Backup transcription factor binding sites protect human genes from mutations in the promoter

Jay C. Brown

published 31 Aug 2023

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Genetic and antiretroviral drug resistance mutations analysis of reverse transcriptase and protease gene from Pakistani people living with HIV-1

Dilsha Siddiqui, Uzma Badar, Mahnoor Javaid, Nida Farooqui, Sharaf Ali Shah, Ayesha Iftikhar, Faisal Sultan, Fatima Mir, Sofia Furqan, Syed Faisal Mahmood, Syed Hani Abidi

published 24 Aug 2023

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Efficacy of novel SARS-CoV-2 rapid antigen tests in the era of omicron outbreak

Kristin Widyasari, Sunjoo Kim

published 10 Aug 2023

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Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways

Wenqiong Ma, Zexiu Wu, Mazaher Maghsoudloo, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Yuqin Zhang, Qiao Weng, Junjiang Fu, Saber Imani, Qing Lian Wen

published 11 Jul 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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MTSviewer: A database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures

Andrew N. Bayne, Jing Dong, Saeid Amiri, Sali M. K. Farhan, Jean-François Trempe

published 24 Apr 2023

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The role of data imbalance bias in the prediction of protein stability change upon mutation

Jianwen Fang

published 30 Mar 2023

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PIK3CA mutations and their impact on survival outcomes of patients with endometrial cancer: A systematic review and meta-analysis

Hanna K. Bredin, Camilla Krakstad, Erling A. Hoivik

published 21 Mar 2023

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Using AlphaFold to predict the impact of single mutations on protein stability and function

Marina A. Pak, Karina A. Markhieva, Mariia S. Novikova, Dmitry S. Petrov, Ilya S. Vorobyev, Ekaterina S. Maksimova, Fyodor A. Kondrashov, Dmitry N. Ivankov

published 16 Mar 2023

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Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma

Ryan Cardenas, Peter Prinsley, Carl Philpott, Mahmood F. Bhutta, Emma Wilson, Daniel S. Brewer, Barbara A. Jennings

published 15 Mar 2023

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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar

published 27 Feb 2023

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Hepatitis B virus genotypes and drug resistance mutations circulating in blood donors in Beira, Mozambique

Ann Mathew, Nalia Ismael, Heidi Meeds, Adolfo Vubil, Ana Flora Zicai, Nédio Mabunda, Jason T. Blackard

published 16 Feb 2023

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