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Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance
The effects of synonymous single nucleotide variants (sSNVs) are often neglected because they do not alter protein primary structure. Nevertheless, there is growing evidence that synonymous variations may affect messenger RNA (mRNA) expression and protein conformation and activity, which may lead to...
Autores principales: | Jankowska, Katarzyna I., Meyer, Douglas, Holcomb, David D., Kames, Jacob, Hamasaki-Katagiri, Nobuko, Katneni, Upendra K., Hunt, Ryan C., Ibla, Juan C., Kimchi-Sarfaty, Chava |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Hematology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631689/ https://www.ncbi.nlm.nih.gov/pubmed/35667091 http://dx.doi.org/10.1182/bloodadvances.2022007065 |
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