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Details on Person Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
| Class:Id | LiteratureReference:9858692 |
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| _displayName | Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies |
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| _timestamp | 2024-01-14 02:29:36 |
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| author | [Person:9858690] Maffucci, Patrick
[Person:9858688] Chavez, Jose
[Person:9858689] Jurkiw, Thomas J
[Person:5358870] O'Brien, Patrick J
[Person:9858686] Abbott, Jordan K
[Person:9858691] Reynolds, Paul R
[Person:9858684] Worth, Austen
[Person:2730991] Notarangelo, Luigi D
[Person:9858694] Felgentreff, Kerstin
[Person:5687166] Cortes, Patricia
[Person:5686144] Boisson, Bertrand
[Person:9858693] Radigan, Lin
[Person:9755841] Cobat, Aurélie
[Person:9858695] Dinakar, Chitra
[Person:9858685] Ehlayel, Mohammad
[Person:5693130] Ben-Omran, Tawfeg
[Person:5228874] Gelfand, Erwin W
[Person:1679000] Casanova, JL
[Person:5432712] Cunningham-Rundles, Charlotte |
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| created | [InstanceEdit:9858687] Rothfels, Karen, 2024-01-14 |
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| journal | J Clin Invest |
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| pages | 5489-5504 |
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| pubMedIdentifier | 30395541 |
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| title | Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies |
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| volume | 128 |
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| year | 2018 |
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| (literatureReference) | [BlackBoxEvent:9858729] MITF-M-dependent LIG1 expression [Homo sapiens] |
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