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Rare Genetic Diseases: Nature's Experiments on Human Development

Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases. We contend that the expanding catalog of mutations in ∼...

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Udgivet i:iScience
Main Authors: Lee, Chelsea E., Singleton, Kaela S., Wallin, Melissa, Faundez, Victor
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229282/
https://ncbi.nlm.nih.gov/pubmed/32422592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.isci.2020.101123
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