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Global genetic carrier testing: a vision for the future
Expanded genetic carrier testing is changing clinical practice. Current experience highlights the need for rigorous curation of tens of thousands of variants as to their pathogenicity and phenotypic effects. There is an urgent need for strategies to present a range of options to families to enable t...
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| Publicado no: | Genome Med |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4517364/ https://ncbi.nlm.nih.gov/pubmed/26221188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0204-9 |
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