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Identification of pathogenic variant enriched regions across genes and gene families
Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene-family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2871 gene-family protein sequence alignments involving 9...
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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
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6961572/ https://ncbi.nlm.nih.gov/pubmed/31871067 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.252601.119 |
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