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Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
Approximately 2% of de novo single-nucleotide variants (SNVs) appear as part of clustered mutations that create multinucleotide variants (MNVs). MNVs are an important source of genomic variability as they are more likely to alter an encoded protein than a SNV, which has important implications in dis...
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| 出版年: | Genome Res |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Cold Spring Harbor Laboratory Press
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6633265/ https://ncbi.nlm.nih.gov/pubmed/31227601 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.239756.118 |
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