Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multifocal seizures +1 more | |
| | | Copy number loss | Monosomy 21 | |
| | LOC125418053, LOC125418054
+219 more | Copy number loss | Monosomy 21 | |
| | BACH1, BACH1-IT2
+215 more | Copy number loss | Monosomy 21 | |
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