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Mutation databases

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

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

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

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

Kristin Widyasari, Sunjoo Kim

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

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

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

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

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

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

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

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

Matthew J. McGuffie, Jeffrey E. Barrick

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

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

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

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

Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, [ ... ], Lisa M. Frenkel

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

Jianwen Fang

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