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Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases

Next-generation sequencing has greatly accelerated the discovery of rare human genetic diseases. Nearly 45% of patients have variants associated with known diseases but the unsolved cases remain a conundrum. Moreover, causative mutations can be difficult to pinpoint because variants frequently map t...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Development
Hauptverfasser: Link, Nichole, Bellen, Hugo J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Company of Biologists Ltd 2020
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7541339/
https://ncbi.nlm.nih.gov/pubmed/32988995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dev.191411
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