Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency
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Associated Genes (1)
Associated Variants (16)
| RSID | Gene | Evidence |
|---|---|---|
| RS121918354 | PKP1 | strong |
| RS2526762309 | PKP1 | strong |
| RS1558193923 | PKP1 | strong |
| RS369918615 | PKP1 | strong |
| RS150488138 | PKP1 | strong |
| RS148096263 | PKP1 | strong |
| RS147328328 | PKP1 | strong |
| RS141060367 | PKP1 | strong |
| RS1553275192 | PKP1 | strong |
| RS1571564381 | PKP1 | strong |
| RS1571557821 | PKP1 | strong |
| RS374045033 | PKP1 | strong |
| RS569564663 | PKP1 | strong |
| RS142096411 | PKP1 | strong |
| RS2102154917 | PKP1 | strong |
| RS367893541 | PKP1 | strong |