Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Kumar, Prateek, Henikoff, Steven, Ng, Pauline C·2009·Nature Protocols
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- Two Polymorphic Variants of ABCC1 Selectively Alter Drug Resistance and Inhibitor Sensitivity of the Multidrug and Organic Anion Transporter Multidrug Resistance Protein 1Conseil, Gwenaëlle, Cole, Susan P.C. · 2013 · Drug Metabolism and Disposition
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- Mild nasal clefting may be predictive for <i>ALX4</i> heterozygotesAltunoglu, Umut, Satkın, Bilge, Uyguner, Zehra Oya, Kayserili, Hülya · 2014 · American Journal of Medical Genetics Part A
- Nearly Half of
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Germline Variants Predicted To Be Pathogenic in Patients With Osteosarcoma Are De Novo: A Report From the Children’s Oncology GroupDiessner, Brandon J., Pankratz, Nathan, Hooten, Anthony J., Mirabello, Lisa, Sarver, Aaron L., Mills, Lauren J., Malkin, David, Kelley, Ava C., Spector, Logan G. · 2020 · JCO Precision Oncology
- Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative statesHuang, August Yue, Zhou, Zinan, Talukdar, Maya, Enyenihi, Liz, Miller, Michael B., Chhouk, Brian, Rosen, Ila, Zheng, Mengyue, Zhou, Minye, Yang, Averill et al. · 2026 · Cell
- Rapid Identification of Biallelic <b><i>SPTB</i></b> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver FailureRichmond, Christopher M., Campbell, Sally, Foo, Hee W., Lunke, Sebastian, Stark, Zornitza, Moody, Amanda, Bannister, Elizabeth, Greenway, Anthea, Brown, Natasha · 2020 · Molecular Syndromology
- RGR variants in different forms of retinal diseases: The undetermined role of truncation mutationsLi, Jiali, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Guo, Xiangming, Zhang, Qingjiong · 2016 · Molecular Medicine Reports
- Computational investigation unveils pathogenic LIG3 non-synonymous mutations and therapeutic targets in acute myeloid leukemiaHossen, Md. Arif, Jahan, Umme Mim Sad, Hossain, Md. Arju, Asif, Khalid Hossain, Rahman, Ahona, Ahmed, Sabbir, Uddin, Md. Moin, Amin, Md Faisal, Barik, Muhammad Abdul, Islam, Mohammod Johirul et al. · 2025 · PLOS One
- An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin familyXu, Jin, Yan, Qing, Song, Chengcheng, Liang, Jingjia, Zhao, Liang, Zhang, Xin, Weng, Zhenkun, Xu, Cheng, Liu, Qian, Xu, Shuqin et al. · 2021 · Hereditas