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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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書誌詳細
出版年:Nature
主要な著者: Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
オンライン・アクセス: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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