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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutations, the characteristics of the genes in which those mutations are found remain largely unexplored....

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Autori principali: Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L., Allen, Andrew S., Goldstein, David B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3749936/
https://ncbi.nlm.nih.gov/pubmed/23990802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003709
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