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Keyword [missense Mutations]
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1. Missense Mutations And Gene-environment Interaction In Essential Hypertension And Myocardial Infarction Of Japanese Peoples
2. The Effect Of N-terminal Deletions And CADASIL-related Missense Mutations On Biological Properties Of Notch3
3. Confirmation Of The G3635a Mutation In The Mitochondrial Nd1 Gene As Causative In Leber's Hereditary Optic Neuropathy
4. The Influences Of The Missense Mutations Of Ubiquitin Specific Protease Gene Usp46and Usp26on Deubiquitinating Enzyme Activity And Their Epidemiological Meaning
5. Novel Phenotype And Mutation Study Of HOXD13Gene In A Congential Synpolydactyly Pedigree Of Chinese
6. The Impacts Of Two Nonsense Mutations And Six Missense Mutations On Enzymatic Activity Of USP26
7. ERG3/ERG11 Mutation And Drug Resistance Of Recurrent Vulvovaginal Candidiasis
8. Impacts Of CASP9 Missense Mutations On Protein Function And Apoptosis In Human Neural Tube Defects
9. The Molecular Basis Of Venous Thromboembolism Caused By Hereditary Anticoagulant Protein Deficiency
10. One Cases Of Rare Imaging Changes And The Study On Pathogenicity Of New Missense Mutations Of Wilson's Disease
11. Screening Of MEN1 Mutants In Primary Hepatocellular Carcinoma And Its Protein Stability Studies
12. Research On The Relationship Between Missense Mutations In Mrr2p And Fluconazole Resistance To Candida Albicans
13. Functional studies of rare CFTR missense mutations facilitate interpretation of genotype-phenotype relationships
14. Therapeutic potential of p53 restoration in spontaneous tumors
15. Computational assessment of somatic missense mutations detected in tumor sequencing studies with cancer-specific high-throughput annotation of somatic mutations (CHASM)
16. Pathogenicity Analysis Of Rare Heterozygous Missense Mutations In RBM20 And MURC Genes
17. Genetic Validation And Pathogenesis Of Candidate Gene NKX6-2 In Children With Congenital Thyroid Dysgenesis
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