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Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
The multiple genetic approaches available for molecular diagnosis of human diseases have made possible to identify an increasing number of pathogenic genetic changes, particularly with the advent of next generation sequencing (NGS) technologies. However, the main challenge lies in the interpretation...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736949/ https://www.ncbi.nlm.nih.gov/pubmed/31506453 http://dx.doi.org/10.1038/s41598-019-49217-7 |