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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...

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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Castro-Sánchez, Sheila, Suarez-Bregua, Paula, Novas, Rossina, Álvarez-Satta, María, Badano, Jose L., Rotllant, Josep, Valverde, Diana
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736949/
https://ncbi.nlm.nih.gov/pubmed/31506453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-49217-7
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