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Vermont: a multi-perspective visual interactive platform for mutational analysis
(BioMed Central Bioinformatics, 2017)
Fast computational mutation-response scanning of proteins
(PeerJ, 2021-04-21)
Studying the effect of perturbations on protein structure is a basic approach in protein research. Important problems, such as predicting pathological mutations and understanding patterns of structural evolution, have been ...
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(2011)
The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(2011)
The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
(Scandinavian University PressOsloNoruega, 1999)
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil
(2017-01-02)
β-Thalassemia (β-thal) is a hemolytic anemia that is caused by point mutations in most cases. The Brazilian population is highly heterogeneous and knowledge of the mutations that make up the genotypic profile of individuals ...
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
Dynamic of Mutational Events in Variable Number Tandem Repeats of Escherichia coli O157:H7
(Hindawi Publishing Corporation, 2013-07)
VNTRs regions have been successfully used for bacterial subtyping; however, the hypervariability in VNTR loci is problematic when trying to predict the relationships among isolates. Since few studies have examined the ...