Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Development
Autors principals: Link, Nichole, Bellen, Hugo J.
Format: Artigo
Idioma:Inglês
Publicat: The Company of Biologists Ltd 2020
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!