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...

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Detalles Bibliográficos
Autores principales: Castro-Sánchez, Sheila, Suarez-Bregua, Paula, Novas, Rossina, Álvarez-Satta, María, Badano, Jose L., Rotllant, Josep, Valverde, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
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

Internet

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

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