Metadata | |
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ID | DOID:0070374 |
Name | leukoencephalopathy with vanishing white matter 1 |
Definition | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/34745209/, https://www.omim.org/entry/603896 |
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