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Literature summary for 2.7.7.10 extracted from
- Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation (2008), Clin. Biochem., 41, 869-874.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| IVS5nt-24G>A | higher risk of catarct for individuals | Homo sapiens |
| K285N | higher risk of catarct for individuals | Homo sapiens |
| L218L | higher risk of catarct for individuals | Homo sapiens |
| N314D | higher risk of catarct for individuals | Homo sapiens |
| Q1883 | higher risk of catarct for individuals | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| peripheral blood | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| galactose-1-phosphate uridyl transferase | - |
Homo sapiens |
| GALT | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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