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Mutation databases

New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation

Jeungjin Kim, Baihe Chen, [ ... ], Dana W. Aswad

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Xiaopei Zhou, Weimin Jia, [ ... ], Xianqin Zhang

ADAMTSL2 is a potential prognostic biomarker and immunotherapeutic target for colorectal cancer: Bioinformatic analysis and experimental verification

Zhe Huang, Xu Hu, [ ... ], Pengzhu Cai

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

Ian C. Lock, Nathan H. Leisenring, [ ... ], David G. Kirsch

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

Kristin Widyasari, Sunjoo Kim

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

Justin Cottrell, Peter Dixon, [ ... ], Trung Le

Epidemiological surveillance of HIV-1 transmitted drug resistance among newly diagnosed individuals in Shijiazhuang, northern China, 2014–2015

Xianfeng Wang, Xiaosong Liu, [ ... ], Ning Wang

Polymorphic variations and mRNA expression of the genes encoding interleukins as well as enzymes of oxidative and nitrative stresses as a potential risk of nephrolithiasis development

Paulina Wigner-Jeziorska, Radosław Grębowski, [ ... ], Janusz Szemraj

Identifying widespread and recurrent variants of genetic parts to improve annotation of engineered DNA sequences

Matthew J. McGuffie, Jeffrey E. Barrick

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, [ ... ], Rhoda Wanyenze

Predisposing deleterious variants in the cancer-associated human kinases in the global populations

Salman Ahmed Khan, Misbah Anwar, [ ... ], Muhammad Shakeel

Pan-cancer analysis of PSCA that is associated with immune infiltration and affects patient prognosis

Chenxing Wang, Xingjia Zhu, [ ... ], Yang Yang

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

Jianwen Fang

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