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2278: Identifying causative mutations in Treacher Collins syndrome using iobio
OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing genomic data. METHODS/STUDY POPULATION: We used t...
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| Publicado no: | J Clin Transl Sci |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cambridge University Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6798973/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2017.64 |
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