Huppke-brendel Syndrome
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Associated Variants (8)
| RSID | Gene | Evidence |
|---|---|---|
| RS113994152 | TSEN54 | strong |
| RS281875283 | SLC33A1 | strong |
| RS863223316 | SLC33A1 | strong |
| RS1308995894 | SLC33A1 | strong |
| RS1577482029 | SLC33A1 | strong |
| RS1577455542 | SLC33A1 | strong |
| RS1577455897 | SLC33A1 | strong |
| RS2109312898 | SLC33A1 | strong |