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Literature summary for 3.4.21.46 extracted from
- Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections (2006), Blood, 107, 4865-4870.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| T638G | factor D deficient mutant | Homo sapiens |
| T640C | factor D deficient mutant | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
two children with meningococcal septic shock | - |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| blood plasma | - |
Homo sapiens | - |
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Release 2023.1 (January 2023)
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