ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
| author |
|
| created | [InstanceEdit:9940703] Stephan, Ralf, 2025-03-06 |
| dbId | 9940680 |
| displayName | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome |
| journal | Nat Genet |
| pages | 575-80 |
| pubMedIdentifier | 22522420 |
| schemaClass | LiteratureReference |
| title | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome |
| url | http://www.ncbi.nlm.nih.gov/pubmed/22522420 |
| volume | 44 |
| year | 2012 |
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