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Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development
Due to advances in sequencing technologies, identification of genetic variants is rapid. However, the functional consequences of most genomic variants remain unknown. Consequently, variants of uncertain significance (VUS) that appear in clinical DNA diagnostic reports lack sufficient data for interp...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260485/ https://www.ncbi.nlm.nih.gov/pubmed/34258141 http://dx.doi.org/10.1002/jmd2.12215 |