Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Lissencephaly type 3 +4 more | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, moderate +5 more | |
Click to view in NCBI Gene