| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00127 | Metachromatic leukodystrophy |
|
|---|
| Reference |
|
|---|
| Authors |
Gieselmann V, Polten A, Kreysing J, von Figura K |
|---|
| Title |
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. |
|---|
| Journal |
|
|---|
| LinkDB |
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|---|
