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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.
Nat Genet. 2019.
PMID: 31570889
Free PMC article.
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B.
Choquet K, et al.
Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y.
Mol Brain. 2017.
PMID: 28407788
Free PMC article.
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