Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
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Neurology. 2019 May 14;92(20):e2364-e2374. doi: 10.1212/WNL.0000000000007505. Epub 2019 Apr 19.
Neurology. 2019.
PMID: 31004071
Free PMC article.