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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
PURPOSE: Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts, however there is variability in transcript selection by laboratories. METHODS: We describe three patients whose genomic results were incorrec...
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| izdano v: | Genet Med |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7335342/ https://ncbi.nlm.nih.gov/pubmed/32366967 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0781-x |
| Oznake: |
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