Article
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Genes - 14 Jan 2023
Underwood Adam, Rasicci Daniel T, Hinds David, Mitchell Jackson T, Zieba Jacob K, Mills Joshua, Arnold Nicholas E, Cook Taylor W, Moustaqil Mehdi, Gambin Yann, Sierecki Emma, Fontaine Frank, Vanderweele Sophie, Das Akansha S, Cvammen William, Sirpilla Olivia, Soehnlen Xavier, Bricker Kristen, Alokaili Maram, Green Morgan, Heeringa Sadie, Wilstermann Amy M, Freeland Thomas M, Qutob Dinah, Milsted Amy, Jauch Ralf, Triche Timothy J, Krawczyk Connie M, Bupp Caleb P, Rajasekaran Surender, Francois Mathias, Prokop Jeremy W
Abstract excerpt
The SOX transcription factor family is pivotal in controlling aspects of development. To identify genotype-phenotype relationships of SOX proteins, we performed a non-biased study of SOX using 1890 open-reading frame and 6667 amino acid sequences in combination with structural dynamics to interpret 3999 gnomAD, 485 ClinVar, 1174 Geno2MP, and 4313 COSMIC human variants. We identified, within the HMG (High Mobility...
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