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Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although classically considered mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in in...
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| 發表在: | Hum Genet |
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| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7275875/ https://ncbi.nlm.nih.gov/pubmed/32067110 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02131-9 |
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