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Publications by Janita Thusberg
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine‐beta‐Synthase Variants
Human Mutation
Genetics
Medium-Chain Acyl-CoA Deficiency: Outlines From Newborn Screening,In SilicoPredictions, and Molecular Studies
The Scientific World Journal
Biochemistry
Medicine
Genetics
Molecular Biology
Environmental Science
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Role of Cystathionine Beta Synthase in Lipid Metabolism in Ovarian Cancer
Oncotarget
Oncology
Assessing Predictions of the Impact of Variants on Splicing in CAGI5
Human Mutation
Genetics
A Proactive Genotype-To-Patient-Phenotype Map for Cystathionine Beta-Synthase
Genome Medicine
Molecular Medicine
Genetics
Molecular Biology
Cystathionine Β-Synthase (CBS)
Science-Business eXchange
Allosteric Control of Human Cystathionine Beta Synthase Activity by a Redox Active Disulfide Bond
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Exploring the Use of Molecular Dynamics in Assessing Protein Variants for Phenotypic Alterations
Human Mutation
Genetics
Cystathionine Β-Synthase (CBS); Cystathionase (CTH)
Science-Business eXchange
Effect of the Disease-Causing R266K Mutation on the Heme and PLP Environments of Human Cystathionine Β-Synthase
Biochemistry
Biochemistry
The 844ins68 Cystathionine Beta-Synthase and C677T MTHFR Gene Polymorphism and the Vaso-Occlusive Event Risk in Sickle Cell Disease
Archives of Medical Science
Medicine