Caricamento...
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...
Salvato in:
| Pubblicato in: | Genet Med |
|---|---|
| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|