| Entry |
|
| Name |
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
|
| Drug target |
| Agalsidase beta: | D03228<JP/US> |
| Pegunigalsidase alfa: | D11685<US> |
|
| Reference |
|
| Authors |
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ |
| Title |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. |
| Journal |
Am J Hum Genet 53:1186-97 (1993) |
| LinkDB |
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