The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures
Abstract Background Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal dominant disorder caused by de novo mutations in the wasp protein fami...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2023-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |