Congenital Myopathy 28 with Rigid Spine
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Associated Genes (1)
Associated Variants (5)
| RSID | Gene | Evidence |
|---|---|---|
| RS2478251946 | HMGCS1 | strong |
| RS1754165557 | HMGCS1 | strong |
| RS2478294429 | HMGCS1 | strong |
| RS2478275416 | HMGCS1 | strong |
| RS1255293139 | HMGCS1 | strong |