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Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms

In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., “Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcep...

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Bibliografski detalji
Glavni autori: Hieter, Philip, Boycott, Kym M.
Format: Artigo
Jezik:Inglês
Izdano: Genetics Society of America 2014
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4196600/
https://ncbi.nlm.nih.gov/pubmed/25316782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.114.170217
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