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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Bibliographic Details
Main Authors: Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez
Format: Article
Language:English
Published: Elsevier 2020-05-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004220303084