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Identification of cis-suppression of human disease mutations by comparative genomics

Patterns of amino acid conservation have served as a tool for understanding protein evolution(1). The same principles have also found broad application in human genomics, driven by the need to interpret the pathogenic potential of variants in patients(2). Here we performed a systematic comparative g...

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Bibliografski detalji
Izdano u:Nature
Glavni autori: Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537371/
https://ncbi.nlm.nih.gov/pubmed/26123021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature14497
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