 | | VARIANT: 5896v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
RAG1 V(D)J recombination-activating protein 1 [KO: K10628]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00092 | T-B-Severe combined immunodeficiency |
| H01244 | T+B+Severe combined immunodeficiencies (SCIDs) |
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| Reference |
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| Authors |
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR |
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| Title |
RAG mutations in human B cell-negative SCID. |
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| Journal |
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| Reference |
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| Authors |
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E |
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| Title |
Partial V(D)J recombination activity leads to Omenn syndrome. |
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| Journal |
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| LinkDB |
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