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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, [ ... ], Abhishek Pathak

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

Xinlong Wang, Aimin Jiang, Chao Li, Zhiyong Liu

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

HLF gene is a poor prognostic factor in acute myeloid leukemia patients with FLT3-ITD/NPM1 mutations undergoing hematopoietic transplantation

Xiaoyu Xu, Xinxin Ge, [ ... ], Hongjie Shen

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-Juan Zhuang

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

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

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

Nazlee Sharmin, Jerald Yuan, Ava K. Chow

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

Christopher Husted, Sarah Adrianowycz, [ ... ], Heather L. Gardner

SARS-COV-2 mutations in North Rift, Kenya

Elius Mbogori, Kelvin Thiongo, [ ... ], Elijah Songok

Benchmarking inverse folding models for antibody CDR sequence design

Yifan Li, Yuxiang Lang, [ ... ], Per Jr. Greisen

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, [ ... ], Antonio Liras

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

Hajin Jeon, Jong Lyul Lee, [ ... ], Jin Ok Yang

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