| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00628 | Congenital bile acid synthesis defect |
|
|---|
| Reference |
|
|---|
| Authors |
Drury JE, Mindnich R, Penning TM |
|---|
| Title |
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. |
|---|
| Journal |
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|---|
| LinkDB |
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|---|
