No abstract available
Keywords:
NKX6-2; Nonsense mutations; Spastic ataxia 8; Truncated proteins.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Humans
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Intellectual Disability*
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Muscle Spasticity / genetics
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Optic Atrophy*
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Spinocerebellar Ataxias* / genetics