| Entry |
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|---|
| Name |
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| Gene |
APRT adenine phosphoribosyltransferase [KO: K00759]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
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|---|
| Disease |
| H00195 | Adenine phosphoribosyltransferase deficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Hidaka Y, Palella TD, O'Toole TE, Tarle SA, Kelley WN |
|---|
| Title |
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. |
|---|
| Journal |
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|---|
| LinkDB |
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