Metadata | |
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ID | DOID:0080689 |
Name | mosaic variegated aneuploidy syndrome 3 |
Definition | A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. https://pubmed.ncbi.nlm.nih.gov/28553959/ |
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