檢索結果 - Michael Garton
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Shifting landscapes of human MTHFR missense-variant effects 由 Jochen Weile, Nishka Kishore, Song Sun, Ranim Maaieh, Marta Verby, Roujia Li, Iosifina Fotiadou, Julia Kitaygorodsky, Yingzhou Wu, Alexander Holenstein, Céline Bürer, Linnea Blomgren, Shan Yang, Robert L. Nussbaum, Rima Rozen, David Watkins, Marinella Gebbia, Viktor Kožich, Michael Garton, D. Sean Froese, Frederick P. Roth
出版 2021Artigo -
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation 由 Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Flodérus, Caroline Schmitt, Laurent Gouya, Alexandre Colavin, Robert L. Nussbaum, Edith C. H. Friesema, Raili Kauppinen, Jordi To‐Figueras, Aasne K. Aarsand, Robert J. Desnick, Michael Garton, Frederick P. Roth
出版 2023Artigo
相關主題
Biology
Gene
Genetics
Computational biology
Missense mutation
Allele
Amino acid
Binding site
Biochemistry
Chemistry
DNA
DNA-binding protein
Evolutionary biology
Function (biology)
Gene isoform
Materials science
Medicine
Metallurgy
Methylenetetrahydrofolate reductase
Molecular biology
Mutation
Peptide
Peptide sequence
Phenotype
Protein Data Bank
Protein Data Bank (RCSB PDB)
Protein structure
Transcription factor
Zinc
Zinc finger