Metadata | |
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ID | DOID:0080294 |
Name | Charcot-Marie-Tooth disease dominant intermediate G |
Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. https://pubmed.ncbi.nlm.nih.gov/28364294/ |
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