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Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
Neurol Genet. 2020 Feb 10;6(2):1-13. doi: 10.1212/NXG.0000000000000397. eCollection 2020 Apr.
Neurol Genet. 2020.
PMID: 32211513
Free PMC article.
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.
Chapman NH, Bernier RA, Webb SJ, Munson J, Blue EM, Chen DH, Heigham E, Raskind WH, Wijsman EM.
Chapman NH, et al. Among authors: heigham e.
Hum Genet. 2018 Oct;137(10):807-815. doi: 10.1007/s00439-018-1939-3. Epub 2018 Oct 1.
Hum Genet. 2018.
PMID: 30276537
Free PMC article.
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