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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an es...
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| 發表在: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4383865/ https://ncbi.nlm.nih.gov/pubmed/25616960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv022 |
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