Articles with "human bardet" as a keyword



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Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

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Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-49217-7

Abstract: 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… read more here.

Keywords: loci; new human; bardet biedl; human bardet ... See more keywords