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Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 2 |
2021 | 1 |
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PubMed (cited) for id: 618065
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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
J Hum Genet. 2021 Apr;66(4):401-407. doi: 10.1038/s10038-020-00853-2. Epub 2020 Oct 10.
J Hum Genet. 2021.
PMID: 33040083
Expanded PCH1D phenotype linked to EXOSC9 mutation.
Bizzari S, Hamzeh AR, Mohamed M, Al-Ali MT, Bastaki F.
Bizzari S, et al.
Eur J Med Genet. 2020 Jan;63(1):103622. doi: 10.1016/j.ejmg.2019.01.012. Epub 2019 Jan 25.
Eur J Med Genet. 2020.
PMID: 30690203
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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.
Burns DT, et al.
Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.
Am J Hum Genet. 2018.
PMID: 29727687
Free PMC article.
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