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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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Detalhes bibliográficos
Main Authors: Hieter, Philip, Boycott, Kym M.
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2014
Assuntos:
Acesso em linha: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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