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The trap of genetic tag: The importance of pathogenicity prediction tools in the correct interpretation of variants of uncertain significance in the era of high‐throughput genome sequencing
Although recent advancements in DNA sequencing technologies and their widely used, the interpretation of variants of uncertain significance from these large datasets is not clear‐cut. Here, we present the case of a family referred to our metabolic disease department, in which three males' indiv...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155503/ https://www.ncbi.nlm.nih.gov/pubmed/37151944 http://dx.doi.org/10.1002/ccr3.7054 |