A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism
A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism
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United States: Cold Spring Harbor Laboratory Press
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Language
English
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Publisher
United States: Cold Spring Harbor Laboratory Press
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Contents
For many inborn errors of metabolism (IEM) the understanding of disease mechanisms remains limited in part explaining their unmet medical needs. We hypothesize that the expressivity of IEM disease phenotypes is affected by the activity of specific modifier pathways, which is controlled by rare and common polygenic variation. To identify these modul...
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Full title
A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism
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TN_cdi_proquest_journals_3169266048
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3169266048
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ISSN
2692-8205
E-ISSN
2692-8205
DOI
10.1101/2025.02.19.639093
