Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Long QT syndrome | |
| | | Single nucleotide variant | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +13 more | |
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