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Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Differentiation between phenotypically neutral and disease-causing genetic variation remains an open and relevant problem. Among different types of variation, non-frameshifting insertions and deletions (indels) represent an understudied group with widespread phenotypic consequences. To address this...

詳細記述

保存先:
書誌詳細
出版年:PLoS Comput Biol
主要な著者: Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6594643/
https://ncbi.nlm.nih.gov/pubmed/31199787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1007112
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