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A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants
PURPOSE: DNA sequencing technology has unmasked a vast number of uncharacterized single nucleotide variants in disease-associated genes, and efficient methods are needed to determine pathogenicity and enable clinical care. METHODS: We report herein an E.coli-based solubility assay for assessing the...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529867/ https://www.ncbi.nlm.nih.gov/pubmed/32475984 http://dx.doi.org/10.1038/s41436-020-0842-1 |