A carregar...
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...
Na minha lista:
| Publicado no: | Genet Med |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
|
| Assuntos: | |
| Acesso em linha: | 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: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|