Links from Orgtrack
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (nonsense +1 more) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Deletion (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
Click to view in NCBI Gene