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Metadata
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/
Xrefs

MIM:617598

Parent Relationships

is_a mosaic variegated aneuploidy syndrome

is_a autosomal recessive disease

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