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1 Ergebnisse
1
Late-onset autosomal recessive cerebellar ataxia and neurop..:
Haruo Shimazaki
;
Junya Kobayashi
;
Ryo Sugaya
..
https://jin.imrpress.com/fileup/1757-448X/PDF/1585708666931-774079272.pdf. , 2020
Link:
https://doi.org/10.31083/j.jin.2020.01.1239
RT Journal T1 <Title>Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:03b6a7fccae24a7bb07e280b52f1cb77&Exemplar=1&LAN=DE A1 Haruo Shimazaki A1 Junya Kobayashi A1 Ryo Sugaya A1 Imaharu Nakano A1 Shigeru Fujimoto PB IMR Press YR 2020 K1 |autosomal recessive cerebellar ataxia|muscle atrophy|neuropathy|ataxia-telangiectasia mutated|splicing mutation|whole-exome sequencing K1 Neurosciences. Biological psychiatry. Neuropsychiatry K1 RC321-571 JF https://jin.imrpress.com/fileup/1757-448X/PDF/1585708666931-774079272.pdf LK http://dx.doi.org/https://doi.org/10.31083/j.jin.2020.01.1239 DO https://doi.org/10.31083/j.jin.2020.01.1239 SF ELIB - SuUB Bremen
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